Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CYP46A1 Gene

protein-coding   GIFtS: 58
GCID: GC14P100150

Cytochrome P450, Family 46, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase))
(Previous symbol: CYP46)
  See CYP46A1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Cytochrome P450, Family 46, Subfamily A, Polypeptide 11 2     CH24H2 3
CYP461 2 3 5     CP462
Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase)1 2     Cholesterol 24-Hydroxylase2
Cytochrome P450 46A12 3     EC 1.14.13.983

External Ids:    HGNC: 26411   Entrez Gene: 108582   Ensembl: ENSG000000365307   OMIM: 6040875   UniProtKB: Q9Y6A23   

Export aliases for CYP46A1 gene to outside databases

Previous GC identifers: GC14P093966 GC14P098140 GC14P099220 GC14P080333


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CYP46A1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to
24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be
secreted in the brain into the circulation to be returned to the liver for catabolism. (provided by RefSeq, Jul
2008)

GeneCards Summary for CYP46A1 Gene:
CYP46A1 (cytochrome P450, family 46, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP46A1 include alzheimer's disease. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a
lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole

Gene Wiki entry for CYP46A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP46A1 gene promoter:
         AhR   Tal-1beta   Arnt   PPAR-gamma1   CP2   FOXJ2 (long isoform)   Chx10   PPAR-gamma2   FOXJ2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP46A1 promoter sequence
   Search Chromatin IP Primers for CYP46A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP46A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.2

CYP46A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP46A1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P100150:  view genomic region     (about GC identifiers)

Start:
100,150,641 bp from pter      End:
100,193,638 bp from pter
Size:
42,998 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2 (See protein sequence)
Recommended Name: Cholesterol 24-hydroxylase  
Size: 500 amino acids; 56821 Da
Cofactor: Heme group
Selected PDB 3D structures from and Proteopedia for CYP46A1 (see all 9):
2Q9F (3D)        2Q9G (3D)        3MDM (3D)        3MDR (3D)        3MDT (3D)        3MDV (3D)    
Secondary accessions: B4DHP8 E7EQG9 Q8N2B0
Alternative splicing: 3 isoforms:  Q9Y6A2-1   Q9Y6A2-2   Q9Y6A2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP46A1: NX_Q9Y6A2

Explore proteomics data for CYP46A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP46A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006659.1  
    ENSEMBL proteins: 
     ENSP00000451069   ENSP00000261835   ENSP00000369577   ENSP00000450553   ENSP00000452151  
     ENSP00000451602   ENSP00000405779  
    Reactome Protein details: Q9Y6A2

    CYP46A1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CYP46A1
    OriGene Protein Over-expression Lysate for CYP46A1
    OriGene MassSpec for CYP46A1
    OriGene Custom Protein Services for CYP46A1
    GenScript Custom Purified and Recombinant Proteins Services for CYP46A1
    Novus Biologicals CYP46A1 Protein
    Novus Biologicals CYP46A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP46A1

     
    Search eBioscience for Proteins for CYP46A1 

     
    antibodies-online proteins for CYP46A1 (4 products) 

     
    antibodies-online peptides for CYP46A1

    CYP46A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP46A1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CYP46A1
    OriGene Custom Antibody Services for CYP46A1
    Novus Biologicals CYP46A1 Antibodies
    Abcam antibodies for CYP46A1
    Cloud-Clone Corp. Antibodies for CYP46A1
    ThermoFisher Antibody for CYP46A1
    antibodies-online antibodies for CYP46A1 (46 products) 

    CYP46A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CYP46A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYP46A1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CYP46A1
    Cloud-Clone Corp. CLIAs for CYP46A1
    Search eBioscience for ELISAs for CYP46A1 
    antibodies-online kits for CYP46A1 (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP46A1
    CYP39, CYP46 and CYP51 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q9Y6A2

    ProtoNet protein and cluster: Q9Y6A2

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP46A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP46A_HUMAN, Q9Y6A2
    Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a
    lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole
    Catalytic activity: Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol;

         Enzyme Number (IUBMB): EC 1.14.13.981

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS10377398
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IDA18621681
         
    Find genes that share ontologies with CYP46A1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cyp46a1):
     homeostasis/metabolism 

    Find genes that share phenotypes with CYP46A1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CYP46A1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CYP46A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP46A1 (see all 16):
    hsa-miR-3152-3p hsa-let-7d hsa-let-7c hsa-miR-3162-5p hsa-let-7g hsa-let-7a hsa-miR-877 hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmidCYP46A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYP46A1
    Predesigned siRNA for gene silencing in human, mouse, rat CYP46A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYP46A1

    Clone
    Products:
         
    OriGene clones in human, mouse for CYP46A1 (see all 7)
    OriGene ORF clones in mouse, rat for CYP46A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYP46A1 (NM_006668)
    Sino Biological Human cDNA Clone for CYP46A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP46A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP46A1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CYP46A1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CYP46A1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP46A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CP46A_HUMAN, Q9Y6A2: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane;
    Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10377398
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CYP46A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CYP46A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    2Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Bile acid and bile salt metabolism0.73
    Primary bile acid biosynthesis0.00
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37


    Find genes that share SuperPaths with CYP46A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CYP46A1
        cytochrome P450
    metapathway biotransformation


    2 Reactome Pathways for CYP46A1
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Endogenous sterols


    1 Kegg Pathway  (Kegg details for CYP46A1):
        Primary bile acid biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP46A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP46A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CYP46A1 (ENSP000002618354) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP39A1ENSP000002750164STRING: ENSP00000275016
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    CELENSP000003611514STRING: ENSP00000361151
    DHCR24ENSP000003603164STRING: ENSP00000360316
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006707cholesterol catabolic process IDA18621681
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007399nervous system development TAS10377398
    GO:0008206bile acid metabolic process TAS--

    Find genes that share ontologies with CYP46A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP46A1 (CP46A)

    7 HMDB Compounds for CYP46A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    24-Hydroxycholesterol(24S)-24-Hydroxycholesterol (see all 13)474-73-7--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for CYP46A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    24s-hydroxy-cholesterol 98 43 15975088 (5), 16321981 (3), 19553612 (3), 19286353 (2) (see all 22)
    lathosterol 71.8 2 15975088 (1), 20298807 (1)
    cholesterol 71.2 155 20502497 (7), 19286353 (4), 16321981 (4), 16734927 (4) (see all 43)



    Find genes that share compounds with CYP46A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CYP46A1 gene: 
    NM_006668.1  

    Unigene Cluster for CYP46A1:

    Cytochrome P450, family 46, subfamily A, polypeptide 1
    Hs.25121  [show with all ESTs]
    Unigene Representative Sequence: AB209749
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554611(uc001ygn.1) ENST00000261835(uc001ygo.3) ENST00000380228
    ENST00000554176(uc001ygp.3) ENST00000554917 ENST00000556313 ENST00000556822
    ENST00000423126
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CYP46A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP46A1 (see all 16):
    hsa-miR-3152-3p hsa-let-7d hsa-let-7c hsa-miR-3162-5p hsa-let-7g hsa-let-7a hsa-miR-877 hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmidCYP46A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CYP46A1
    Predesigned siRNA for gene silencing in human, mouse, rat CYP46A1
    Clone
    Products:
         
    OriGene clones in human, mouse for CYP46A1 (see all 7)
    OriGene ORF clones in mouse, rat for CYP46A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYP46A1 (NM_006668)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP46A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP46A1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CYP46A1
    OriGene qSTAR qPCR primer pairs in human, mouse for CYP46A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYP46A1
      QuantiTect SYBR Green Assays in human, mouse, rat CYP46A1
      QuantiFast Probe-based Assays in human, mouse, rat CYP46A1

    Additional mRNA sequence: 

    AB209749.1 AF094480.1 AK090886.1 AK295216.1 BC022539.1 BC128037.1 

    3 DOTS entries:

    DT.108005  DT.120794727  DT.97821898 

    Selected AceView cDNA sequences (see all 31):

    CD623075 AF094480 NM_006668 BU070694 BC022539 BU070933 BM727874 AI554732 
    BM805680 AK090886 BQ066937 CD623081 AA961615 AW469811 BU741551 H06539 
    CD623079 BI552024 AA760981 BG704256 BM548130 CF456253 H16164 BF930893 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:                                -                                                                     
    SP2:                                                                                -                     


    ECgene alternative splicing isoforms for CYP46A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CYP46A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCTTCCTG
    CYP46A1 Expression
    About this image


    CYP46A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Globus Pallidus   
    CYP46A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP46A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25121

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    Tissue specificity: Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones
    and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases
    linearly with age

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP46A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CYP46A1
    OriGene qSTAR qPCR primer pairs in human, mouse for CYP46A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYP46A1
    QuantiTect SYBR Green Assays in human, mouse, rat CYP46A1
    QuantiFast Probe-based Assays in human, mouse, rat CYP46A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP46A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP46A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp46a11 , 5 cytochrome P450, family 46, subfamily a, polypeptide more1, 5 89.6(n)1
    94.8(a)1
      12 (59.41 cM)5
    131161  NM_010010.11  NP_034140.11 
     1083343815 
    chicken
    (Gallus gallus)
    Aves CYP46A11 cytochrome P450, family 46, subfamily A, polypeptide more 66.52(n)
    60.21(a)
      423450  NM_001252027.1  NP_001238956.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    53(a)
    51(a)
    1 ↔ many
    1 ↔ many
    GL343270.1(1499233-1521092)
    GL343270.1(1476011-1494012)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644042 hypothetical protein MGC64404 72.81(n)    BC054222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636022 hypothetical protein MGC63602 74.19(n)   393433  BC055161.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp310a16
    Cyp310a1
    18(a)
    1 → many
    2L(18651058-18652999)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP97A31 CYP97A3 40.64(n)
    29.64(a)
      840067  NM_102914.3  NP_564384.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08179001 Os02g0817900 44.22(n)
    30.61(a)
      4331152  NM_001055061.1  NP_001048526.1 


    ENSEMBL Gene Tree for CYP46A1 (if available)
    TreeFam Gene Tree for CYP46A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CYP46A1 gene
    CYP19A12  CYP11B12  CYP24A12  CYP11B22  CYP27B12  CYP11A12  CYP27A12  CYP27C12  
    3 SIMAP similar genes for CYP46A1 using alignment to 5 protein entries:     CP46A_HUMAN (see all proteins):
    CYP3A43    CYP3A5    CYP4B1

    Find genes that share paralogs with CYP46A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CYP46A1
    PGOHUM00000261896


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CYP46A1 (see all 952)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874910291,2
    Cuntested181175142(+) GAGATC/TGTGGC 2 I syn10--------
    rs2003721921,2
    --80334675(+) CCCCC-/CCCA  
            
    CCCCC
    1 -- int10--------
    rs2017044571,2
    --80334676(+) CCCCC-/CCACCCCC 1 -- int10--------
    rs1997151371,2
    --80334677(+) CCCCC-/CACCCCC 1 -- int10--------
    rs284067361,2
    C--80334678(+) CCCCCC/ACCCCC 1 -- int12Minor allele frequency- A:0.00NA 4
    rs1427645051,2
    C--80334678(+) CCCCC-/ACCCCC 1 -- int10--------
    rs345914571,2
    C--80351665(+) AAAAA-/GAAAAA 1 -- int10--------
    rs352677151,2
    C--80363036(+) AAAAA-/A/AAA 
            
    TTAAT
    2 -- int1 cds11CSA 2
    rs1459263111,2
    C--80363036(+) ATCTC-/AAAAAAA 1 -- int10--------
    rs355347171,2
    C--80364361(+) ATCTC-/AAAAAA 1 -- int10--------
    rs125864191,2
    C,F,H--80369361(+) ttttcC/Tttttt 1 -- int1 trp31Minor allele frequency- T:0.50NA 4
    rs80197531,2
    C,F,A--81139509(+) ggattT/Cgctgt 1 -- us2k112Minor allele frequency- C:0.50NA WA CSA EA 376
    rs80036021,2
    C,F,A--81139572(+) CCTCTC/TCAGAC 1 -- us2k115Minor allele frequency- T:0.41NA EA WA CSA 736
    rs619844391,2
    F--81139909(+) GGGCCG/AGGCGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1117109791,2
    C,F--81139921(+) GGGGGG/CATGGA 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1124629711,2
    F--81140045(+) ACCCCT/AAACAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1482115831,2
    C--81140047(+) CCTAA-/CCAGCC 1 -- us2k10--------
    rs37833201,2
    C,F,A,H--81140069(+) CCCTAG/ACTATA 1 -- us2k124Minor allele frequency- A:0.39NS EA NA WA CSA 2346
    rs41450391,2
    C,F,A,H--81140113(-) TGGGGG/TTTGGA 1 -- us2k122Minor allele frequency- T:0.33NS EA NA WA CSA 2348
    rs1468779631,2
    --81140211(+) TCCAGC/TCCGGG 1 -- us2k10--------
    rs1809211421,2
    --81140260(+) TCCCCG/TGCCAC 1 -- us2k10--------
    rs1128412271,2
    F--81140331(+) CCTCAT/ACTTCA 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs1859650221,2
    --81140762(+) TTTGGA/GAACAG 1 -- us2k10--------
    rs2021689491,2
    C--81140774(+) CGGCG-/TTATGC 1 -- us2k10--------
    rs1168371371,2
    --81140824(+) GGGGGA/GAAAAG 1 -- us2k10--------
    rs71576091,2
    C,F,H--81141056(+) GTGAAG/AACCAC 1 -- us2k116Minor allele frequency- A:0.28NS EA NA 2222
    rs619844401,2
    C,F--81141586(+) CCTAGT/CGCGCG 1 -- int12Minor allele frequency- C:0.39NA EA 122
    rs1904902501,2
    --81141592(+) GCGCGC/TGGCCG 1 -- int10--------
    rs1395603491,2
    --81141671(+) CTGCTG/TGGCGC 1 -- int10--------
    rs1441766741,2
    --81141904(+) GAGCAC/TGCTGT 1 -- int10--------
    rs1823194061,2
    --81142532(+) CTGTTC/GACCTG 1 -- int10--------
    rs1465833541,2
    --81142674(+) ATTAGA/GCACAC 1 -- int10--------
    rs1869357211,2
    --81142696(+) TCAGGA/TCATGA 1 -- int10--------
    rs1904872711,2
    --81142759(+) AGCCTG/TAATCT 1 -- int10--------
    rs116266351,2
    C,F,H--81142966(+) CTGCTC/TCCCCA 1 -- int13Minor allele frequency- T:0.05WA NA EA 358
    rs1409703711,2
    --81143141(+) TGTACA/GTGCAT 1 -- int10--------
    rs128855551,2
    C,F--81143199(+) CCCGTA/GAGTTC 1 -- int113Minor allele frequency- G:0.06NA WA CSA EA 378
    rs1827213011,2
    --81143208(+) TCCGTG/TGTGGA 1 -- int10--------
    rs1855362211,2
    --81143347(+) GTGTCC/TTGAGA 1 -- int10--------
    rs1114789101,2
    C,F--81143468(+) GCCATT/CGCCAC 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1502143761,2
    --81143670(+) CTTAGC/TATAAT 1 -- int10--------
    rs733485981,2
    C,F--81143725(+) TCCTTC/TTTATG 1 -- int13Minor allele frequency- T:0.13WA 122
    rs1455796071,2
    --81143791(+) GGGTGC/TGGAGG 1 -- int10--------
    rs1826887751,2
    --81143941(+) TGGAAA/GCTCTT 1 -- int10--------
    rs1878086141,2
    --81144019(+) TTGACA/GAGAGA 1 -- int10--------
    rs802413541,2
    F--81144189(+) CACATC/GCTACT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1931440431,2
    --81144196(+) TACTGC/TACCGA 1 -- int10--------
    rs170989231,2
    C,F,H--81144204(+) CGATCC/TGTGTA 1 -- int115Minor allele frequency- T:0.04NA NS EA WA 2110
    rs1840478341,2
    --81144244(+) GATCCA/CACACA 1 -- int10--------
    rs1886020861,2
    --81144294(+) CTTCCC/TTCATC 1 -- int10--------
    rs609352921,2
    C,F--81144518(+) ATCTGA/GTGAGC 1 -- int13Minor allele frequency- G:0.08WA 122
    rs1922049511,2
    --81144551(+) CGCCAA/CCCTGC 1 -- int10--------
    rs744433821,2
    C,F--81144568(+) GGCATG/AAGCCA 1 -- int12Minor allele frequency- A:0.13WA NA 238
    rs9438841,2
    C,F,A,H--81144599(-) GGGTAA/GGCGTG 1 -- int123Minor allele frequency- G:0.16NS EA NA WA CSA 2265
    rs71593491,2
    C,H--81144685(+) GATGGC/TCTCTC 1 -- int16Minor allele frequency- T:0.00NS EA NA 420
    rs1843914931,2
    --81144739(+) GGTCCA/CCACTC 1 -- int10--------
    rs1488757081,2
    --81144806(+) CGGTGA/GGGGAT 1 -- int10--------
    rs1436238721,2
    --81144844(+) TGCTGC/TGTCCA 1 -- int10--------
    rs1158777171,2
    F--81144965(+) GTCTTC/TCTGTT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs799478931,2
    C--81145011(+) AGAAGA/GAATGG 1 -- int10--------
    rs2006587961,2
    --81145014(+) GGAAT-/GGGGTT 1 -- int10--------
    rs1887516681,2
    --81145053(+) AGGACC/TCCACC 1 -- int10--------
    rs1381689121,2
    --81145084(+) TCCTGA/GGATGG 1 -- int10--------
    rs1434222531,2
    --81145119(+) AGGGAA/GCCCCA 1 -- int10--------
    rs1916960851,2
    --81145343(+) CACCCC/TGTACT 1 -- int10--------
    rs1844795501,2
    --81145410(+) CTCCCC/GCTCCA 1 -- int10--------
    rs1159808831,2
    C,F--81145458(+) CTGAGC/AAAAGG 1 -- int11Minor allele frequency- A:0.09WA 118
    rs587344401,2
    C--81145536(+) CGCACA/C/TCCTTC 1 -- int10--------
    rs1457389701,2
    C--81145556(+) CGGGAA/GGGTAG 1 -- int10--------
    rs1176477611,2
    F--81145705(+) TTCCCT/ATCACC 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1130631511,2
    C--81145732(+) CTGCCG/ACCCCC 1 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs1169024931,2
    C,F--81145845(+) TTCCCG/AGTGAT 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1387405331,2
    --81145862(+) GTTGTC/TGCACC 1 -- int10--------
    rs1412224021,2
    C--81145951(+) GCATCC/TTCCTC 1 -- int10--------
    rs1168335981,2
    C,F--81146037(+) CCTATG/ACTCCC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs71443981,2
    C,F,A,H--81146113(+) ATCCAA/GTCACT 1 -- int17Minor allele frequency- G:0.31NA WA EA 366
    rs1894150941,2
    --81146171(+) CTAGCC/TTACAG 1 -- int10--------
    rs1823226571,2
    --81146194(+) CTCCAC/GATCTG 1 -- int10--------
    rs1856981371,2
    C--81146664(+) GCAGCC/GCAGGC 1 -- int10--------
    rs1891680291,2
    --81146699(+) CCCCCA/TTAGCC 1 -- int10--------
    rs124328041,2
    C,F,H--81146835(+) tgtccC/Ttgctt 1 -- int19Minor allele frequency- T:0.07NS EA NA 1060
    rs783102441,2
    C,F--81146861(+) TTACTC/TTCTGC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1399343481,2
    --81146938(+) GTGGAA/CCCCAG 1 -- int10--------
    rs1816098221,2
    --81147257(+) TCAGAC/TCTTGG 1 -- int10--------
    rs1857823321,2
    --81147304(+) CAAGCG/TTAGCG 1 -- int10--------
    rs1494019801,2
    C--81147320(+) ATAATG/TGAACA 1 -- int10--------
    rs746677691,2
    C--81147349(+) TAAACA/GGACAC 1 -- int10--------
    rs1812896741,2
    --81147451(+) CTCTCC/TGCCTT 1 -- int10--------
    rs19524241,2
    C,F,O,H--81147469(-) ATCACA/GTTCTC 1 -- int131Minor allele frequency- G:0.02NS EA NA WA CSA 2430
    rs1169415711,2
    C,F--81147560(+) TGGAAT/CGAGCT 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1861484201,2
    --81147677(+) TGTGCA/CATTGT 1 -- int10--------
    rs1463966351,2
    --81147728(+) AATACA/GGTTAA 1 -- int10--------
    rs19524231,2
    C,F,O,A--81147797(-) GACCAG/TGCTGG 1 -- int15Minor allele frequency- T:0.22CSA WA NA EA 363
    rs1397428231,2
    --81147811(+) ATTGGC/GGAATA 1 -- int10--------
    rs37423751,2
    C,F,A,H--81147922(+) GGGGTC/GTTTGG 1 -- int112Minor allele frequency- G:0.26NS EA NA WA 786
    rs1442096181,2
    --81147994(+) GTGCTA/GTAACC 1 -- int10--------
    rs1465570841,2
    --81147999(+) GTAACC/TTCCCC 1 -- int10--------
    rs1910478491,2
    --81148034(+) AGTGGA/GCCTAG 1 -- int10--------
    rs1824046671,2
    C--81148215(+) TGTCAC/TTTGTT 1 -- int10--------
    rs9438831,2
    C,F,A,H--81148345(-) CTCACC/TTGCCT 1 -- int18Minor allele frequency- T:0.41NA CSA WA EA 374
    rs9438821,2
    C,F,H--81148489(-) AAGTGT/ACACAC 1 -- int118Minor allele frequency- A:0.05NA NS EA WA CSA 676
    rs1172440591,2
    C,F--81148632(+) GACTCG/AGCAAG 1 -- int11Minor allele frequency- A:0.05NA 120
    rs1130857021,2
    F--81148646(+) GCAACA/GGGGCA 1 -- int13Minor allele frequency- G:0.05CSA WA 122
    rs7542031,2
    C,F,A,H--81148665(-) AGCCCT/CGGGGG 1 -- int18Minor allele frequency- C:0.28NA CSA WA EA 370
    rs1487107241,2
    --81148701(+) TGGTAA/GCATGC 1 -- int10--------
    rs49004421,2
    C,F,A,H--81148939(+) CCTTTC/TCTTGG 1 -- int127Minor allele frequency- T:0.43NS EA NA CSA WA 2946
    rs1174912811,2
    C,F--81149008(+) ATTTCG/AGCTGG 1 -- int12Minor allele frequency- A:0.02NA EA 240
    rs1512715501,2
    C--81149255(+) AAATTG/TATCAG 1 -- int10--------
    rs792758991,2
    F--81149296(+) CTTAAA/GGAGTG 1 -- int11Minor allele frequency- G:0.05WA 118
    rs1879661681,2
    --81149375(+) TTATTA/GGTCCC 1 -- int10--------
    rs1909104111,2
    --81149376(+) TATTAC/GTCCCT 1 -- int10--------
    rs1403052591,2
    C--81149444(+) TGGCAC/GGCACC 1 -- int10--------
    rs1831238381,2
    C--81149528(+) GAGATC/TGTGCC 1 -- int10--------
    rs1874592331,2
    --81149789(+) GAACCC/TGGGAG 1 -- int10--------
    rs1476473291,2
    --81149842(+) CCTGGA/GTGACA 1 -- int10--------
    rs42686921,2
    H--81150039(+) tcattC/Ttgggc 1 -- int12Minor allele frequency- T:0.00NS 208
    rs1422376001,2
    C--81150098(+) GGTTGC/TAAGAA 1 -- int10--------
    rs1919099921,2
    --81150231(+) TGCAAC/TGGAGG 1 -- int10--------
    rs1848676101,2
    --81150350(+) CATTAA/GAAGTT 1 -- int10--------
    rs1461192411,2
    --81150582(+) GTTAAC/GAGTTT 1 -- int10--------
    rs1877966781,2
    --81150674(+) GGGAAG/TTGGTA 1 -- int10--------
    rs1927264451,2
    --81150713(+) TGTATA/GGGAGT 1 -- int10--------
    rs1386858041,2
    --81150758(+) CACCAA/GTGAAG 1 -- int10--------
    rs592400691,2
    C,F--81150954(+) CACCAT/CCCATC 1 -- int13Minor allele frequency- C:0.05WA CSA 122
    rs1488238981,2
    --81150993(+) AAACTA/GTGTAT 1 -- int10--------
    rs1435202731,2
    --81150994(+) AACTGC/TGTATC 1 -- int10--------
    rs1479974381,2
    --81151028(+) CCCTCC/TCCCCA 1 -- int10--------
    rs1151743301,2
    C,F--81151031(+) TCCCCC/ACAGAC 1 -- int11Minor allele frequency- A:0.07WA 118
    rs348321901,2
    C,F--81151050(+) CCACTA/GTTCTA 1 -- int110Minor allele frequency- G:0.24NA WA CSA EA 372
    rs287873211,2
    C,F--81151068(+) TCTCCG/ATGAAT 1 -- int17Minor allele frequency- A:0.41NA CSA WA EA 366
    rs19583181,2
    C,F,H--81151073(-) gtccaA/Gttcac 1 -- int18Minor allele frequency- G:0.05NS NA WA 1014
    rs1415322801,2
    --81151081(+) GACTAC/GTTTAT 1 -- int10--------
    rs354081181,2
    C--81151122(+) CCTTTT/-CGCAT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1842009601,2
    --81151192(+) TCAGCA/GTTTCC 1 -- int10--------
    rs1894355411,2
    --81151320(+) CATGAG/TATTTT 1 -- int10--------
    rs351214201,2
    C--81151330(+) TTTTT-/T/TT  
            
    AATGT
    1 -- int11NA 2
    rs111605391,2
    C,F,H--81151493(+) ggtttT/Ccttca 1 -- int113Minor allele frequency- C:0.06NA WA CSA EA 379
    rs1818328791,2
    --81151571(+) CTGTCA/GCCTAG 1 -- int10--------
    rs1463518261,2
    C--81151833(+) CAGCCA/GATTTC 1 -- int10--------
    rs1844811641,2
    --81152146(+) CTGTTA/GTTGAT 1 -- int10--------
    rs1384011881,2
    --81152190(+) CTCATC/TATCAT 1 -- int10--------
    rs1430870321,2
    C--81152192(+) CATCAC/TCATGA 1 -- int10--------
    rs1461520991,2
    --81152193(+) ATCATC/GATGAT 1 -- int10--------
    rs1397146201,2
    --81152288(+) AGTGTA/GTGTTG 1 -- int10--------
    rs118458091,2
    C,H--81152319(+) ttttaG/Aaaatg 1 -- int15Minor allele frequency- A:0.00NS EA NA 420
    rs1497607781,2
    --81152363(+) AAATCG/TTTTAA 1 -- int10--------
    rs748525721,2
    --81152366(+) TCTTTC/TAAATC 1 -- int10--------
    rs1814871611,2
    --81152411(+) GCAGGG/TCAAGG 1 -- int10--------
    rs1447341621,2
    --81152454(+) TATTTA/CTACTT 1 -- int10--------
    rs1866089651,2
    --81152572(+) ATGTTA/CATCTT 1 -- int10--------
    rs1910556781,2
    --81152729(+) ATCTCA/GGCTCA 1 -- int10--------
    rs1809810131,2
    --81152889(+) GCTCCC/TGACCT 1 -- int10--------
    rs347032771,2
    C,F--81152982(+) TTATGC/TTTAGT 1 -- int14Minor allele frequency- T:0.04NA 126
    rs772669261,2
    C,F--81153080(+) AGTTGT/ATTCTT 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs1452525501,2
    --81153162(+) TTGATA/GTGGCT 1 -- int10--------
    rs787978461,2
    C,F--81153168(+) TGGCTG/ATGTTT 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1125702311,2
    C--81153271(+) TTTAGTAT/-TCTGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs797184771,2
    C--81153311(+) GATTGA/CTTGAT 1 -- int13Minor allele frequency- C:0.11CSA NA EA 242
    rs1476241761,2
    --81153329(+) GACAGG/TATCTC 1 -- int10--------
    rs101375741,2
    C,F,H--81153618(+) tctgcC/Gttggt 1 -- int110Minor allele frequency- G:0.29NS EA NA WA 766
    rs71562581,2
    C,F,A,H--81153635(+) tatttC/Gctgta 1 -- int113Minor allele frequency- G:0.34NA WA CSA EA 500
    rs1852138621,2
    --81153708(+) ATATTA/GGTAAT 1 -- int10--------
    rs1911657561,2
    C--81153718(+) TACATA/GTTTTA 1 -- int10--------
    rs1833313981,2
    --81153772(+) GGTATA/GGGTCA 1 -- int10--------
    rs1421476701,2
    --81153913(+) GTTACC/TTGCAG 1 -- int10--------
    rs1876712271,2
    --81153978(+) AGTAGA/GCTTTT 1 -- int10--------
    rs1445686051,2
    --81154042(+) GCGGAA/GGGTCT 1 -- int10--------
    rs1512203601,2
    C--81154049(+) GTCTTA/GTGTCT 1 -- int10--------
    rs1502853691,2
    --81154320(+) TTCTCC/GCTGGT 1 -- int10--------
    rs1142035651,2
    F--81154474(+) GGCACG/ATCTGC 1 -- int11Minor allele frequency- A:0.05WA 118
    rs796576831,2
    F--81154600(+) TCACAA/TTCCTG 1 -- int11Minor allele frequency- T:0.05WA 118
    rs1918807221,2
    --81154638(+) TAGACA/GTTTCA 1 -- int10--------
    rs1832572151,2
    --81154805(+) GTCACC/TAGGCC 1 -- int10--------
    rs1379895801,2
    --81154875(+) ACCTGA/GTCAGA 1 -- int10--------
    rs1409382311,2
    --81154937(+) AGAATG/TGCTCA 1 -- int10--------
    rs1883235681,2
    C--81155052(+) AGTGTC/TTGGGT 1 -- int10--------
    rs1446492031,2
    --81155143(+) TTAAAA/CCCCCA 1 -- int10--------
    rs1157694251,2
    F--81155366(+) CTCTCC/TGCAGC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1926401461,2
    --81155393(+) AATCCA/TGTGTC 1 -- int10--------
    rs80102531,2
    C,F,A--81155494(+) CCAGGC/TGTGGT 1 -- int111Minor allele frequency- T:0.30NA WA CSA EA 374
    rs1384484771,2
    --81155495(+) CAGGTA/GTGGTG 1 -- int10--------
    rs1150410751,2
    F--81155529(+) CTTGGG/ATTGAC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs80090111,2
    C,F,A--81155551(+) TGAACT/CGCAGG 1 -- int110Minor allele frequency- C:0.30NA WA CSA EA 372
    rs1116056701,2
    C--81155670(+) AACTCTT/-ATATC 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1429458471,2
    --81155715(+) GTGAGC/TAACTC 1 -- int10--------
    rs1461560011,2
    C--81156023(+) TTCCCA/GGGTGG 1 -- int10--------
    rs1150049771,2
    F--81156051(+) TCCTTG/CACTGC 1 -- int11Minor allele frequency- C:0.06WA 118
    rs1837454471,2
    --81156059(+) TGCCCA/GGCTTG 1 -- int10--------
    rs1866273871,2
    --81156160(+) CTCTGA/GTTTCA 1 -- int10--------
    rs766895521,2
    F--81156221(+) TGGGGT/GTCCGA 1 -- int11Minor allele frequency- G:0.06WA 118
    rs1483643821,2
    C--81156242(+) GGAGTA/GAGCAA 1 -- int10--------
    rs37423761,2
    C,F,H--81156367(+) GGGATC/TATGCA 1 -- int126Minor allele frequency- N:0.00EA NA NS WA 2972
    rs1414273221,2
    C--81156391(+) CACTGC/TGGCTG 1 -- int10--------
    rs1149463221,2
    F--81156639(+) AGTGCG/AGTCCA 1 -- int11Minor allele frequency- A:0.02WA 118
    rs754980531,2
    C,F--81156802(+) TAACAC/TGATCA 1 -- int12Minor allele frequency- T:0.03CSA WA 120
    rs1508159011,2
    C--81156841(+) ATTCCA/GGTAAA 1 -- int10--------
    rs1142233861,2
    F--81156859(+) TAACAT/CTCACC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1926951571,2
    --81156872(+) TTTCCC/TCACCT 1 -- int10--------
    rs37423771,2
    C,F,H--81156922(+) GTGGCG/ACAACC 1 -- int117Minor allele frequency- A:0.15NS EA CSA WA NA 2365
    rs9438811,2
    C,F,A,H--81156994(-) gagcgA/Gctgct 1 -- int125Minor allele frequency- G:0.23NA EA NS WA CSA 2600
    rs1163755231,2
    C--81157031(+) CACGTG/ATGTGT 1 -- int12Minor allele frequency- A:0.00WA EU 1353
    rs1996817731,2
    C--81157042(+) CTCCTA/GCAGAC 1 -- int11Minor allele frequency- G:0.00EU 1287
    rs1392455291,2
    C,F--81157070(+) GTGTCC/TGAATG 2 S syn12Minor allele frequency- T:0.00NA EU 5871
    rs1995754651,2
    C--81157147(+) GCCGGA/GGGCTC 1 -- int10--------
    rs2018087681,2
    --81157160(+) TGGCTC/TCTGCC 1 -- int10--------
    rs9438801,2
    C,F,A,H--81157183(-) GCAGCC/GCCTAC 1 -- int113Minor allele frequency- G:0.21NS EA NA WA CSA 750
    rs1847284071,2
    --81157342(+) GCCCCC/TACGCA 1 -- int10--------
    rs1891759241,2
    --81157343(+) CCCCCA/GCGCAG 1 -- int10--------
    rs128949731,2
    C,F,H--81157344(+) CCCCAC/TGCAGT 1 -- int119Minor allele frequency- T:0.25NS EA NA WA 2338
    rs128951211,2
    C,F,H--81157406(+) CTGTCC/GTCCAA 1 -- int119Minor allele frequency- G:0.25NS EA NA WA 2244
    rs1439288511,2
    C--81157430(+) CAGACC/TTCATC 1 -- int10--------
    rs1931732231,2
    --81157471(+) TTTGAA/GTTTTT 1 -- int10--------
    rs768111231,2
    C--81157529(+) CGATGG/TAATGC 1 -- int10--------
    rs781501891,2
    C--81157530(+) GATGGA/TATGCA 1 -- int10--------
    rs1850687341,2
    --81157559(+) TAAGAA/TTATAA 1 -- int10--------
    rs1472724001,2
    --81157641(+) ATGTTG/TGTGGT 1 -- int10--------
    rs1405521961,2
    --81157672(+) TGCTGC/TACTGC 1 -- int10--------
    rs1443697511,2
    --81157716(+) GACAGC/TACGTA 1 -- int10--------
    rs1142302891,2
    F--81157718(+) CAGTAC/TGTAAT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs39302411,2
    C,H--81157820(+) TTTTTA/CAAAG 1 -- int15Minor allele frequency- C:0.00NS EA NA 422
    rs3683344091,2
    C--81157820(+) TTTTT-/A/CAAAGT 1 -- int10--------
    rs49058801,2
    C,F,A--81157882(+) CATTAT/GTATCA 1 -- int18Minor allele frequency- G:0.33NA WA CSA EA 367
    rs1456300801,2
    --81157918(+) TATTGC/TCCCTG 1 -- int10--------
    rs1165967481,2
    F--81157955(+) GAGGTG/AGAAGG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs49058811,2
    C,F,H--81158287(+) attagC/Tgtgca 1 -- int120Minor allele frequency- T:0.31NS EA NA WA CSA 2336
    rs356832821,2
    C,F--81158582(+) GCTGTA/TCACAC 1 -- int110Minor allele frequency- T:0.26NA WA CSA EA 372
    rs1484722571,2
    --81158635(+) TTGTCA/GTTAAG 1 -- int10--------
    rs343150281,2
    C,F--81158698(+) ACATAC/ACATAC 1 -- int19Minor allele frequency- A:0.24NA WA CSA EA 370
    rs733504151,2
    C,F--81158789(+) GAACAT/CTTTCA 1 -- int13Minor allele frequency- C:0.11WA CSA 122
    rs71481581,2
    C,F,A,H--81158841(+) tgcctG/Ataatc 1 -- int16Minor allele frequency- A:0.50NA WA CSA 16
    rs361120811,2
    C,F--81158865(+) GGGCCA/GAGGCA 1 -- int15Minor allele frequency- G:0.40NA WA 10
    rs1132744731,2
    F--81158873(+) GCAGGC/TGGATC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs71485041,2
    C,F,A,H--81158990(+) gctacT/Gcggga 1 -- int18Minor allele frequency- G:0.20NA WA CSA 15
    rs1413512711,2
    --81159031(+) GAGGCA/GGAGGT 1 -- int10--------
    rs1899475911,2
    --81159047(+) TGAGCC/TGAGAT 1 -- int10--------
    rs1812108271,2
    --81159063(+) CACTGC/TACTCC 1 -- int10--------
    rs118455731,2
    C,F,H--81159112(+) aaaaaG/Aaaaaa 1 -- int1 trp32Minor allele frequency- A:0.50WA CSA 4
    rs1502377091,2
    --81159126(+) AGGCAA/GTCATT 1 -- int10--------
    rs1389529881,2
    --81159154(+) TCCCCC/TACCTG 1 -- int10--------
    rs1153180601,2
    F--81159155(+) CCCCTA/CCCTGC 1 -- int11Minor allele frequency- C:0.04WA 118
    rs1854644721,2
    --81159238(+) AATATA/GTAGTC 1 -- int10--------
    rs1882708581,2
    --81159418(+) TTGGGC/TTATTA 1 -- int10--------
    rs1494404501,2
    --81159455(+) GTACAA/GGTGTT 1 -- int10--------
    rs1806784151,2
    --81159556(+) GTAATC/GTTTGA 1 -- int10--------
    rs570904791,2
    C,F--81159768(+) AACCAT/CTTAAG 1 -- int15Minor allele frequency- C:0.24WA CSA NA 244
    rs1438066451,2
    C--81160143(+) TTTGGC/TGGTAA 1 -- int10--------
    rs19515751,2
    C,F--81160172(+) TGTCCT/CCTGTG 1 -- int110Minor allele frequency- C:0.26NA WA CSA EA 372
    rs1177697371,2
    F--81160180(+) GTGGGG/TCATTG 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1383422981,2
    --81160187(+) ATTGTA/GTCAGG 1 -- int10--------
    rs19515761,2
    C,F,A,H--81160310(+) TGGAGA/GACTGT 1 -- int121Minor allele frequency- G:0.27NS EA NA WA CSA 2348
    rs1864655371,2
    --81160389(+) CCAATG/TTATCC 1 -- int10--------
    rs1175591431,2
    C,F--81160543(+) CTTTGC/TATCCC 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1438272851,2
    --81160588(+) TTCTGG/TCATCT 1 -- int10--------
    rs24757721,2
    C,H--81160629(+) CTGGGG/TAATTC 1 -- int15Minor allele frequency- T:0.00NS EA NA 418
    rs1918444731,2
    --81160757(+) GACCAC/TGGATC 1 -- int10--------
    rs1472758221,2
    --81160778(+) GAAGAC/TGCACC 1 -- int10--------
    rs1837807791,2
    --81160794(+) CCTGAC/GTCCTG 1 -- int10--------
    rs1145211921,2
    F--81160887(+) AGTCTC/TAGTCT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1407690211,2
    C--81160919(+) GAAAAC/TGGGAA 1 -- int10--------
    rs1866877121,2
    C--81160942(+) AAAGAG/TACATT 1 -- int10--------
    rs1428175111,2
    C--81161209(+) TTGCCA/GTCTTA 1 -- int10--------
    rs1507800941,2
    --81161256(+) CATTCA/GCATTA 1 -- int10--------
    rs345131481,2
    C,F--81161309(+) ATAAGA/GTGTTG 1 -- int18Minor allele frequency- G:0.26NA WA CSA EA 368
    rs1420964411,2
    C--81161480(+) CATTA-/CCCACA 1 -- int10--------
    rs124359181,2
    C,F,H--81161588(+) CCACCA/GAGGGA 1 -- int124Minor allele frequency- G:0.31NA NS EA WA CSA 2492
    rs21830471,2
    C--81161678(-) TGGCCA/GGTTAT 1 -- int10--------
    rs610767711,2
    C,F--81161706(+) CAACTT/GAAATG 1 -- int19Minor allele frequency- G:0.26NA WA CSA EA 370
    rs176430081,2
    C,F,H--81161770(+) CCAACC/TATGTA 1 -- int131Minor allele frequency- T:0.25NA EA NS WA CSA 2984
    rs170989271,2
    C,F,H--81161788(+) TGAGAA/CAAAGT 1 -- int119Minor allele frequency- N:0.00NA NS EA CSA 2426
    rs714227851,2
    C,F--81161793(+) AAAAGC/TCAAGG 1 -- int12Minor allele frequency- T:0.50NA 4
    rs1915898511,2
    --81161794(+) AAAGTA/CAAGGG 1 -- int10--------
    rs1160428631,2
    F--81161858(+) GAAGCG/AGCCTT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs1825189951,2
    --81161860(+) AGCGGC/GCTTTG 1 -- int10--------
    rs1868437821,2
    --81161880(+) CTGGAA/GAAGGG 1 -- int10--------
    rs761486581,2
    F--81161935(+) TCCAGG/AAGAGG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1499688441,2
    --81162026(+) TGTTAC/TAGGTG 1 -- int10--------
    rs1450796091,2
    C--81162040(+) GTCAGC/TGAGAA 1 -- int10--------
    rs573764391,2
    C,F--81162041(+) TCAGCG/AAGAAG 1 -- int12Minor allele frequency- A:0.05WA 120
    rs1398174431,2
    --81162087(+) ATCCCC/TCTCCT 1 -- int10--------
    rs342127761,2
    C,F--81162096(+) CTAAGA/GGCAAC 1 -- int19Minor allele frequency- G:0.26NA WA CSA EA 370
    rs20386131,2
    C,H--81162129(+) GTTGCA/CAAGGG 1 -- int15Minor allele frequency- C:0.00NS EA NA 410
    rs116282701,2
    C,F,H--81162145(+) ATGAGA/TGTGGA 1 -- int18Minor allele frequency- T:0.08NS EA NA CSA 658
    rs1431163631,2
    --81162187(+) GCGTCA/GGCTAG 1 -- int10--------
    rs1913245731,2
    --81162232(+) TTCTTC/TTCCCA 1 -- int10--------
    rs1467012481,2
    --81162330(+) CCTCCA/TGGGCT 1 -- int10--------
    rs1402709671,2
    --81162348(+) TCCTCC/TGGCCT 1 -- int10--------
    rs1434904751,2
    --81162349(+) CCTCCA/GGCCTC 1 -- int10--------
    rs340658531,2
    C--81162438(+) TCTTGG/-CTGTG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1148109521,2
    F--81162474(+) TGGCCG/ACAAGC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1821031501,2
    --81162596(+) AGATAC/TGTTTC 1 -- int10--------
    rs1513075401,2
    --81162668(+) TAACAC/TTTCTA 1 -- int10--------
    rs348913721,2
    C,F--81162683(+) CGGGTG/ACAGTG 1 -- int18Minor allele frequency- A:0.21NA WA CSA EA 134
    rs1115749981,2
    C,F--81162707(+) ATCCCT/AGCACT 1 -- int12Minor allele frequency- A:0.33WA CSA 3
    rs1504944971,2
    C--81162876(+) CTTGAA/GCCCAG 1 -- int10--------
    rs359650111,2
    C,F--81162949(+) GACTCT/CGTCTA 1 -- int18Minor allele frequency- C:0.26NA WA CSA EA 367
    rs1158208441,2
    --81163004(+) AGCAGC/GATTTT 1 -- int10--------
    rs125887441,2
    C,F,A,H--81163055(+) CAGTCC/TCCTCC 1 -- int1 trp328Minor allele frequency- T:0.09NS EA NA WA CSA 2479
    rs1891529961,2
    C--81163089(+) TTTTTA/GTGAGT 1 -- int10--------
    rs1385172051,2
    --81163164(+) GAGCTC/TTGGGG 1 -- int10--------
    rs21812291,2
    C,H--81163173(+) GGTGCA/GAATGG 1 -- int117Minor allele frequency- G:0.00NS EA WA NA CSA 798
    rs22738381,2
    C,H--81163378(+) GTCACG/ATCCCT 1 -- int17Minor allele frequency- A:0.00EA NS NA 1924
    rs21462381,2
    C,F,A,H--81163422(+) CAGAGG/TACCTG 1 -- int127Minor allele frequency- T:0.27EA NS NA WA CSA 3850
    rs1175333821,2
    C,F--81163429(+) CCTGTG/AGAACT 1 -- int11Minor allele frequency- A:0.01NA 120
    rs733504321,2
    C,F--81163482(+) GAGAAT/CGGTGA 1 -- int13Minor allele frequency- C:0.06WA CSA 122
    rs1170083191,2
    C,F--81163517(+) TACAAC/TTCCAA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs22738391,2
    C,F,H--81163592(+) ACAGTA/GTCCTC 1 -- int118Minor allele frequency- G:0.23EA NS NA WA CSA 2646
    rs1930534221,2
    C--81163632(+) CACCAC/TATTGG 1 -- int10--------
    rs1438385171,2
    C--81163652(+) TGGCCA/GTTGAT 1 -- int10--------
    rs758329741,2
    C--81163711(+) ACGAGA/GAGGCT 2 K E mis10--------
    rs747300471,2
    C--81163792(+) CCTACA/CCCGCC 2 T P mis10--------
    rs1854105021,2
    C--81163823(+) GATGGG/TTGACA 1 -- int10--------
    rs1463203411,2
    C--81163866(+) GTAGAA/GGGGTC 1 -- int10--------
    rs1899411241,2
    --81163901(+) CTTCCC/TCTCCC 1 -- int10--------
    rs778127841,2
    F--81164006(+) TTGGGG/ACTAGT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1168875201,2
    C,F--81164039(+) AGGTGC/TAGGGC 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1390179561,2
    --81164215(+) GGGGCA/GGGGCA 1 -- int10--------
    rs761135761,2
    F--81164228(+) TCAGGG/CAACTG 1 -- int11Minor allele frequency- C:0.05NA 120
    rs37833211,2
    C,F,H--81164260(+) ATTCCT/GCTTTA 1 -- int129Minor allele frequency- G:0.27NA NS EA WA CSA 2916
    rs1493841471,2
    C--81164309(+) ACTTCA/GCTGTG 1 -- int10--------
    rs44852831,2
    C,F,H--81164387(+) AAGCCA/TAGTTT 1 -- int125Minor allele frequency- T:0.09NS EA NA CSA 2684
    rs80110151,2
    C,F--81164406(+) GCTACA/G/TATGAG 1 -- int18NA WA EA 368
    rs1919313211,2
    --81164465(+) TTGTAA/CGCAGC 1 -- int10--------
    rs774695221,2
    C,F--81164487(+) TGCATA/CTAAAC 1 -- int11Minor allele frequency- C:0.02EA 120
    rs2008470781,2
    --81164712(+) AGGTAC/TTGCCT 1 -- int10--------
    rs360182161,2
    C,F--81164871(+) CTAAAG/ATAAAG 1 -- int18Minor allele frequency- A:0.23NA WA EA 368
    rs1447293401,2
    --81165063(+) CGAAAA/GGTGCA 1 -- int10--------
    rs24007661,2
    H--81165116(+) AATctG/Acccca 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs1841852671,2
    --81165236(+) AGTGCC/TGCCAC 1 -- int10--------
    rs1417138121,2
    --81165318(+) TCCACA/GGGCCT 1 -- int10--------
    rs1885113071,2
    --81165359(+) AGCGCC/TTGCCA 1 -- int10--------
    rs1505897411,2
    --81165410(+) CTGGCC/GCCCAC 1 -- int10--------
    rs1152564941,2
    F--81165578(+) ACTAGC/TGCCTG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1461931051,2
    C--81165622(+) CTTGCC/TGACAC 1 -- int10--------
    rs1809292921,2
    --81165679(+) GCCCAC/TCACCC 1 -- int10--------
    rs1159874231,2
    C,F--81165727(+) GGGGAT/CTGGCT 1 -- int11Minor allele frequency- C:0.02WA 118
    rs49058821,2
    C,F,A,H--81165802(+) CCTCCT/CGCTAC 1 -- int112Minor allele frequency- C:0.28WA NA CSA EA 373
    rs1852016861,2
    --81165815(+) CTGGCA/GCCCAC 1 -- int10--------
    rs124340241,2
    C,F,H--81165968(+) agaaaC/Gtcaga 1 -- int111Minor allele frequency- G:0.12NS EA NA CSA WA 770
    rs1161122841,2
    C,F--81165977(+) GAGATA/GCCACT 1 -- int1