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CYP24A1 Gene

protein-coding   GIFtS: 68
GCID: GC20M052769

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase))
(Previous symbol: CYP24)
  See CYP24A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 24, Subfamily A, Polypeptide 11 2     1,25-@Dihydroxyvitamin D3 24-Hydroxylase2
CYP241 2 3 5     1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial2
Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)1 2     CP242
Cytochrome P450 24A12 3     P450-CC242
Cytochrome P450-CC242 3     Exo-Mitochondrial Protein2
Vitamin D(3) 24-Hydroxylase2 3     Vitamin D 24-Hydroxylase2
24-OHase2 3     EC 1.14.13.1263
HCAI2 5     

External Ids:    HGNC: 26021   Entrez Gene: 15912   Ensembl: ENSG000000191867   OMIM: 1260655   UniProtKB: Q079733   

Export aliases for CYP24A1 gene to outside databases

Previous GC identifers: GC20M052458 GC20M053408 GC20M053455 GC20M052203 GC20M049516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP24A1 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 mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the
physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin
D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP24A1 Gene:
CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP24A1 include hypercalcemia, infantile, and williams syndrome. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of
calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up
to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity
leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product

Gene Wiki entry for CYP24A1 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP24A1 gene promoter:
         AML1a   AP-1   ATF-2   FOXD3   YY1   C/EBPalpha   CREB   AREB6   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP24A1 promoter sequence
   Search Chromatin IP Primers for CYP24A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP24A1


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

Entrez Gene cytogenetic band: 20q13   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2-q13.3

CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP24A1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M052769:  view genomic region     (about GC identifiers)

Start:
52,769,988 bp from pter      End:
52,790,516 bp from pter
Size:
20,529 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973 (See protein sequence)
Recommended Name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial precursor  
Size: 514 amino acids; 58875 Da
Cofactor: Heme group (By similarity)
Secondary accessions: Q15807 Q32ML3 Q5I2W7
Alternative splicing: 3 isoforms:  Q07973-1   Q07973-2   Q07973-3   (Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites)

Explore the universe of human proteins at neXtProt for CYP24A1: NX_Q07973

Explore proteomics data for CYP24A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP24A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000773.2  NP_001122387.1  

    ENSEMBL proteins: 
     ENSP00000216862   ENSP00000379285   ENSP00000379284  
    Reactome Protein details: Q07973

    CYP24A1 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for CYP24A1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP24A1
    CYP24, CYP26 and CYP27 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 Q07973

    ProtoNet protein and cluster: Q07973

    1 Blocks protein domain: IPB002949 CC24 mitochondrial P450 signature

    UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP24A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP24A_HUMAN, Q07973
    Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of
    calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up
    to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity
    leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product
    Catalytic activity: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O
    Catalytic activity: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O

         Enzyme Number (IUBMB): EC 1.14.13.1261

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:000840325-hydroxycholecalciferol-24-hydroxylase activity IEA--
    GO:0016491oxidoreductase activity NAS7632726
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding TAS8506296
         
    Find genes that share ontologies with CYP24A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP24A1:
     Cell cycle / mitosis defect 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp24a1):
     growth/size/body  homeostasis/metabolism  mortality/aging  renal/urinary system  reproductive system 
     skeleton 

    Find genes that share phenotypes with CYP24A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cyp24a1tm1Star for CYP24A1

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    miRNA
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    hsa-mir-125b-5p (MIRT004408), hsa-mir-26b-5p (MIRT029534), hsa-mir-215-5p (MIRT024646), hsa-mir-192-5p (MIRT026473)

    Block miRNA regulation of human, mouse, rat CYP24A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP24A1 (see all 16):
    hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidCYP24A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP24A1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    eBioscience FlowRNA Probe Sets ( VA6-12888) for CYP24A1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP24A_HUMAN, Q07973: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--

    Find genes that share ontologies with CYP24A1           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).
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    SuperPaths for CYP24A1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Vitamins0.00
    Phase 1 - Functionalization of compounds0.75
    Vitamin D2 ergocalciferol metabolism0.00
    cytochrome P4500.74
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    5superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57


    Find genes that share SuperPaths with CYP24A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for CYP24A1
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Vitamin D2 (ergocalciferol) metabolism

    4 BioSystems Pathways for CYP24A1
        Vitamin D synthesis
    cytochrome P450
    Nuclear receptors in lipid metabolism and toxicity
    metapathway biotransformation

    2 Reactome Pathways for CYP24A1
        Vitamins
    Vitamin D (calciferol) metabolism


    3 Kegg Pathways  (Kegg details for CYP24A1):
        Steroid biosynthesis
    Metabolic pathways
    MicroRNAs in cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP24A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP24A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CYP24A1 (Q079732, 3 ENSP000002168624) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CITED1Q999663, ENSP000003885484I2D: score=1 STRING: ENSP00000388548
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    VDRP114733, ENSP000002290224I2D: score=1 STRING: ENSP00000229022
    TARBP2Q156333I2D: score=2 
    CCT2ENSP000002993004STRING: ENSP00000299300
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEP17023519
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0033280response to vitamin D IDA16720713

    Find genes that share ontologies with CYP24A1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP24A1 (CP24A)

    9 HMDB Compounds for CYP24A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Calcidiol25-Hydroxyvitamin D3 (see all 11)19356-17-3--
    Calcitriol(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol (see all 19)32222-06-3--
    CalciumCa (see all 2)7440-70-2--
    Ercalcitriol1,25-Dihydroxycalciferol (see all 7)60133-18-8--
    Ergocalciferol(+)-Vitamin D2 (see all 72)50-14-6--
    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--
    Vitamin D3(+)-Vitamin D3 (see all 32)67-97-0--

    6 DrugBank Compounds for CYP24A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ErgocalciferolSynthetic Vitamin D (see all 2)50-14-6enzymesubstrate15574355 15764712 16816472 11686044 16516540
    Calcitriol1,25-(OH)2D3 (see all 2)32222-06-3enzymesubstrate inducer20619365 19934256
    CalcidiolCalcifediol (see all 4)19356-17-3enzymesubstrate19934256
    Calcipotriol-- 112965-21-6enzymesubstrate16886668
    CorticotropinACTH (see all 5)9002-60-2enzymeinducer19920212
    Paricalcitol-- 131918-61-1enzymesubstrate15733015

    Selected Novoseek inferred chemical compound relationships for CYP24A1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcitroic acid 91.3 5 11686044 (1), 15574355 (1), 17646648 (1), 16816472 (1) (see all 5)
    vitamin d 90.9 152 11179754 (4), 19237542 (3), 14760115 (3), 14648702 (2) (see all 81)
    calcitriol 90.9 96 17368180 (6), 16708384 (4), 12027461 (4), 12914530 (3) (see all 40)
    1,25 dihydroxy vitamin d3 90.6 38 15225756 (3), 16457885 (2), 19922790 (2), 15836435 (2) (see all 24)
    25-hydroxyvitamin d 89.7 42 11686044 (2), 16600026 (2), 11012668 (2), 17395559 (2) (see all 27)
    1,24,25-trihydroxyvitamin d3 88.2 3 12504896 (1), 9165006 (1)
    bm 15766 82.5 4 16598763 (2), 16824767 (2)
    24,25-dihydroxyvitamin d3 82.3 3 12504896 (1), 9165006 (1)
    paricalcitol 69.8 1 16371233 (1)
    7-dehydrocholesterol 61.5 3 16598763 (1), 16824767 (1)



    Find genes that share compounds with CYP24A1           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 )
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    REFSEQ mRNAs for CYP24A1 gene (2 alternative transcripts): 
    NM_000782.4  NM_001128915.1  

    Unigene Cluster for CYP24A1:

    Cytochrome P450, family 24, subfamily A, polypeptide 1
    Hs.89663  [show with all ESTs]
    Unigene Representative Sequence: NM_000782
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216862(uc002xwu.1 uc002xwv.2 uc002xww.2) ENST00000395955
    ENST00000460643 ENST00000395954 ENST00000487593 ENST00000472970
    miRNA
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    hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CYP24A1
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    Additional mRNA sequence: 

    AY858838.1 BC109083.1 BC109084.1 L13286.1 S67623.1 

    6 DOTS entries:

    DT.99972261  DT.91986788  DT.75108883  DT.311476  DT.75100645  DT.91696137 

    Selected AceView cDNA sequences (see all 29):

    BM928702 AA877213 AW205073 BG401173 NM_000782 BU662901 N29030 AI400154 
    BF800401 CD013988 S67623 BX109503 AW237530 AW194692 BF356900 N20655 
    L13286 AW206049 AI928330 BI491491 N21576 N30976 AW022349 AW022233 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYP24A1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d
    SP1:                          -     -                                         -                       -           -                     
    SP2:                          -     -                                         -                 -     -           -                     
    SP3:                                                                          -                       -           -                     
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for CYP24A1

    (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

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    CYP24A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATACTTAT
    CYP24A1 Expression
    About this image


    CYP24A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    CYP24A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP24A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89663
        Pathway & Disease-focused RT2 Profiler PCR Array including CYP24A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CYP24A1
    OriGene qSTAR qPCR primer pairs in human, mouse for CYP24A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYP24A1
    QuantiTect SYBR Green Assays in human, mouse, rat CYP24A1
    QuantiFast Probe-based Assays in human, mouse, rat CYP24A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for CYP24A1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp24a11 , 5 cytochrome P450, family 24, subfamily a, polypeptide more1, 5 81.06(n)1
    82.88(a)1
      2 (91.91 cM)5
    130811  NM_009996.31  NP_034126.11 
     1704827085 
    chicken
    (Gallus gallus)
    Aves CYP24A11 cytochrome P450, family 24, subfamily A, polypeptide more 70.84(n)
    71.87(a)
      395827  NM_204979.1  NP_990310.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    77(a)
    69(a)
    1 ↔ many
    1 ↔ many
    AAWZ02036255(2048-16669)
    GL343716.1(170008-188769)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004969671 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like 58.75(n)
    54.68(a)
      100496967  XM_002941250.2  XP_002941296.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp24a11 cytochrome P450, family 24, subfamily A, polypeptide more 66.59(n)
    70.33(a)
      100004700  NM_001089458.1  NP_001082927.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp12b21 Cyp12b2 43.46(n)
    28.38(a)
      37163  NM_137526.3  NP_611370.2 
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-44A11 cyp-44A1 42.25(n)
    30.84(a)
      173936  NM_062651.3  NP_495052.1 


    ENSEMBL Gene Tree for CYP24A1 (if available)
    TreeFam Gene Tree for CYP24A1 (if available)

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

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    Paralogs for CYP24A1 gene
    CYP19A12  CYP11B12  CYP46A12  CYP11B22  CYP27B12  CYP11A12  CYP27A12  CYP27C12  
    5 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry:     CP24A_HUMAN:
    CYP27C1    CYP27A1    CYP11B2    CYP11B1    CYP27B1

    Find genes that share paralogs with CYP24A1           About GenesLikeMe



    (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

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    Selected SNPs for CYP24A1 (see all 711)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60688121,2,,4
    C,F,HHypercalcemia infantile (HCAI)4 --52744604(+) TGGGTA/GAAGCA 4 S L mis113Minor allele frequency- G:0.00NS EA NA MN EU 6785
    rs1143683251,2,,4
    C,FHypercalcemia infantile (HCAI)4 --52744644(+) AGTCCG/AAGTTG 4 /R /W mis12Minor allele frequency- A:0.00NA 4724
    VAR_0664094
    Hypercalcemia infantile (HCAI)4--see VAR_0664092 R Q mis40--------
    VAR_0664104
    Hypercalcemia infantile (HCAI)4--see VAR_0664102 E K mis40--------
    rs106230121,2
    C--49516610(+) AAGAC-/ATGTGAA 2 -- ut316Minor allele frequency- AT:0.27EU EA NA MN CSA 432
    rs110864511,2
    C--49519007(+) TGTTA-/ATTTAA 2 -- int10--------
    rs561091951,2
    C,F--49531771(+) CTTCTT/CTATTT 2 -- int13Minor allele frequency- C:0.17WA NA EA 358
    rs61271211,2
    C--49531773(+) TCTTTC/ATTTCT 2 -- int16Minor allele frequency- A:0.49WA CSA NA EA 362
    rs1808008201,2
    --49531816(+) CCTTCC/GCTCCT 2 -- int10--------
    rs119069371,2
    C,H--49531905(+) cttccC/Ttccct 2 -- int1 trp30--------
    rs106276791,2
    C--49533041(+) TTTTT-/T/TT  
            
    CTAAT
    2 -- int1 trp31CSA 2
    rs1399869191,2
    --52739478(+) GCCACA/GGAAAA 2 -- ds50010--------
    rs9276481,2
    C,F,A,H--52739562(+) GGTAGG/CCAGGG 2 -- ds500115Minor allele frequency- C:0.20NS EA NA WA CSA 788
    rs790108781,2
    C,F--52739575(+) TGAAAT/CGGTTC 2 -- ds50011Minor allele frequency- C:0.14WA 118
    rs1852875751,2
    --52739582(+) GTTCGA/TAACCT 2 -- ds50010--------
    rs739126291,2
    C,F--52739646(+) AGAACA/GGGCTC 2 -- ds50012Minor allele frequency- G:0.07WA 120
    rs1905780611,2
    --52739670(+) CCCCCC/TTTTCA 2 -- ds50010--------
    rs9276491,2
    C,F,A--52739694(+) TGTGTG/AACTGA 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs60139041,2
    C,F--52739716(+) GAAAGG/TGGGTA 2 -- ds50011Minor allele frequency- T:0.05WA 118
    rs27629331,2
    C,F,O,A,H--52739873(+) CCATAA/TGAGAA 2 -- ds500120Minor allele frequency- N:0.01NS EA NA WA 2066
    rs81205631,2
    C,F--52739906(+) GTTTGA/TATTTG 2 -- ds50016Minor allele frequency- T:0.12NA WA EA 364
    rs48114941,2
    C,F,A--52739954(+) AGTCTC/TTCAAA 2 -- ds50019Minor allele frequency- T:0.43NA WA CSA EA 370
    rs2013326111,2
    --52740022(+) ACAAG-/ACACGTG 2 -- ut310--------
    rs2017832701,2
    C--52740024(+) CAAGAC/TGTGAA 2 -- ut310--------
    rs339484581,2
    C--52740027(+) AGACG-/ATTGAAT 2 -- ut310--------
    rs1118019351,2
    C--52740027(+) AAGACA/GTGAAT 2 -- ut310--------
    rs1492409511,2
    --52740148(+) ATAATA/GTAGGA 2 -- ut310--------
    rs1180997301,2
    F--52740296(+) CATTTA/GTGAAA 2 -- ut311Minor allele frequency- G:0.01EA 120
    rs1820560371,2
    --52740398(+) ACAGAA/CAAATT 2 -- ut310--------
    rs119073501,2
    C,F,H--52740411(+) GGCATG/AGGAAA 2 -- ut31 ese325Minor allele frequency- A:0.09NA NS EA WA CSA 2464
    rs752137381,2
    C,F--52740567(+) ATACAC/TGGACA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs60229871,2
    C,F,A--52740568(+) TACACG/CGACAC 2 -- ut31 ese325Minor allele frequency- C:0.20NA EA MN WA 3436
    rs1471245411,2
    --52740584(+) CACAG-/ACACACA 2 -- ut310--------
    rs1853011401,2
    --52740616(+) TCATAC/TGCACA 2 -- ut310--------
    rs169990601,2
    C,F,H--52740845(+) GGGAGG/ACCTGA 2 -- ut31 ese311Minor allele frequency- A:0.06NA NS EA WA 1348
    rs1883212531,2
    --52740864(+) ACCATC/TATTTA 2 -- ut310--------
    rs1811381491,2
    --52740966(+) CAGAAA/GATTTA 2 -- ut310--------
    rs558151221,2
    C--52741065(-) GGTTAA/C/GAAACC 4 -- ut311CSA 1
    rs1857799021,2
    --52741082(+) TGACTA/GACAAG 2 -- ut310--------
    rs48099571,2
    C,F,A,H--52741143(+) AGGCCA/GTTCTA 2 -- ut3136Minor allele frequency- G:0.42NS EA NA MN WA CSA 3580
    rs31711821,2
    C--52741187(-) TGCTGG/ATTTAC 2 -- ut31 ese38Minor allele frequency- A:0.00MN NA 592
    rs169990671,2
    C,F--52741206(+) TGTAGA/CATGCC 2 -- ut319Minor allele frequency- C:0.05NA MN WA 664
    rs60688111,2
    C--52741222(+) TCCCAG/ACACTC 2 -- ut31 ese37Minor allele frequency- A:0.00NA MN 408
    rs27629341,2
    C,F,A,H--52741233(+) AGTCCG/ACTTCC 2 -- ut31 ese331Minor allele frequency- A:0.15EA NA NS MN WA 5028
    rs1912933391,2
    --52741264(+) GCAAAC/TACCAC 2 -- ut310--------
    rs1444250171,2
    --52741333(+) CTGGGA/CCTAAA 2 -- int10--------
    rs344685791,2
    C--52741343(+) ATATTC/TTTTAT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1148941681,2
    C,F--52741435(+) AATGGC/TTGTTT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs713239931,2
    C,F--52741445(+) TTGGTC/TTTGGT 2 -- int12Minor allele frequency- T:0.50NA 4
    rs3749721521,2
    C--52741450(+) CTTGG-/TAAAAA
    AAAAAAAA
    AAAAA
    2 -- int10--------
    rs60229881,2
    C,A--52741691(+) GCTCAG/AAATTT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs752060671,2
    C,F--52741692(+) CTCAGA/GATTTG 2 -- int11Minor allele frequency- G:0.04WA 118
    rs1835908471,2
    --52741709(+) TTCATA/CATAGC 2 -- int10--------
    rs60978081,2
    A--52741765(+) GTTCAA/GAAATT 2 -- int10--------
    rs1869335191,2
    --52741855(+) TTTTCC/TAGGAA 2 -- int10--------
    rs1484088711,2
    --52741902(+) GAATCC/TGGGTT 2 -- int10--------
    rs1922662081,2
    --52741903(+) AATCCA/GGGTTT 2 -- int10--------
    rs1425396571,2
    C--52741980(+) TGGCTC/TACACT 2 -- int10--------
    rs1832651181,2
    --52741992(+) GCAATC/TCCAGC 2 -- int10--------
    rs1865200201,2
    --52742026(+) GATCAC/TGAGGT 2 -- int10--------
    rs1913494161,2
    --52742057(+) GGCCAA/GCATAA 2 -- int10--------
    rs1824394261,2
    --52742064(+) ATAATA/GAAACC 2 -- int10--------
    rs605497181,2
    C--52742253(+) AAAAAG/AAAAAA 2 -- int11Minor allele frequency- A:0.00NA 2
    rs736223011,2
    C,F--52742257(+) AAAAAG/AAAAAA 2 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1475915681,2
    --52742319(+) TCATTA/GTAATG 2 -- int10--------
    rs1400768571,2
    C--52742406(+) TATGCC/TATTTG 2 -- int10--------
    rs1455821841,2
    --52742407(+) ATGCTA/CTTTGG 2 -- int10--------
    rs2006085341,2
    --52742418(+) TTATG-/TTTATT 2 -- int10--------
    rs1477405811,2
    --52742527(+) CAGAAA/GAAGTA 2 -- int10--------
    rs345999231,2
    C,F--52742609(+) ACATGT/CGGTTG 2 -- int13Minor allele frequency- C:0.33NA 6
    rs1881817961,2
    --52742655(+) TCCACC/TGCTTG 2 -- int10--------
    rs1927761041,2
    --52742664(+) TGTTTC/TTTATA 2 -- int10--------
    rs9276501,2
    C,F,A,H--52742710(+) acagaC/Tctcct 2 -- int128Minor allele frequency- T:0.31NS EA NA WA CSA 2769
    rs1410786301,2
    --52742791(+) TGAAAA/TTAAAT 2 -- int10--------
    rs1852474901,2
    --52742804(+) ATGAAC/GTTGGA 2 -- int10--------
    rs9276511,2
    C,F,A,H--52742865(+) gaagaA/Gagaga 2 -- int1 trp327Minor allele frequency- G:0.43NS EA NA WA CSA 2762
    rs9276521,2
    C,F,A--52742880(+) caaagT/Cgtgag 2 -- int110Minor allele frequency- C:0.41NA WA CSA EA 372
    rs1502762711,2
    --52742900(+) ACCAAC/TCATTG 2 -- int10--------
    rs60640521,2
    H--52743044(+) tgccaA/Ccaacc 2 -- int14Minor allele frequency- C:0.00NS EA 410
    rs1901772021,2
    --52743106(+) CAACAC/TGATAA 2 -- int10--------
    rs60918241,2
    C,F,A,H--52743205(+) atttgT/Cggtgg 2 -- int113Minor allele frequency- C:0.28NS EA NA WA 790
    rs1456787321,2
    --52743344(+) GCCAAC/TTGGCC 2 -- int10--------
    rs60978091,2
    C,F,H--52743479(+) TTTTGC/G/TGATAC 2 -- int126NS EA NA WA 2982
    rs1134972391,2
    C--52743514(+) AAATG-/AAAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1923811681,2
    --52743561(+) TCACCC/TAGCAA 2 -- int10--------
    rs60978101,2
    C,F,A--52743603(+) CTGGCT/CGACTT 2 -- int19Minor allele frequency- C:0.42WA NA CSA EA 373
    rs1144991051,2
    F--52743632(+) TCGTCA/TTTCTC 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1849726021,2
    C--52743651(+) GCAGAA/GGATAA 2 -- int10--------
    rs1160651151,2
    C,F--52743703(+) AAAACG/ACGATG 4 /A /V mis14Minor allele frequency- A:0.01WA NA EU 6051
    rs617309991,2
    C,F--52743705(+) AACGCG/AATGGG 4 /I syn17Minor allele frequency- A:0.05NS WA NA EU 6277
    rs771677341,2
    C--52743749(+) TAGCAC/TCTCAA 4 M V mis10--------
    rs731357731,2
    C,F--52743783(+) ATGTCG/ATATTT 4 /Y syn11Minor allele frequency- A:0.01NA 180
    rs1435236851,2
    C,F--52743791(+) TTTGCG/AGACAA 4 /R /C mis12Minor allele frequency- A:0.00NA EU 5665
    rs592411151,2
    C--52743811(+) CACACA/GCACAC 2 -- int10--------
    rs2009435201,2
    C--52743813(+) CACGCA/GCACAA 2 -- int10--------
    rs1439761291,2
    F--52743899(+) ACCCAA/GCAAAG 3 C syn1 int11Minor allele frequency- G:0.00NA 4548
    rs2003058031,2
    --52743920(+) AGTTGA/TAGCTC 3 L syn1 int10--------
    rs1125962181,2
    C,F--52743961(+) TCCAAC/TGCCAA 3 I V mis1 int12Minor allele frequency- T:0.00CSA NA 4552
    rs2009551461,2
    C--52743978(+) GATGCG/ACAAAA 3 /A /V mis1 int11Minor allele frequency- A:0.00EU 1321
    rs1411525731,2
    C,F--52744014(+) GCCAAC/TGTTCA 3 H R mis1 int11Minor allele frequency- T:0.00NA 4550
    rs1383690611,2
    --52744328(+) TTAAAC/TCCCTT 2 -- int10--------
    rs15706691,2
    C,F,A,H--52744396(+) AAAAGG/ATGAAA 2 -- int139Minor allele frequency- A:0.49NS EA NA MN WA CSA 3609
    rs1881701091,2
    --52744399(+) AGATGA/TAACTG 2 -- int10--------
    rs1807822991,2
    --52744421(+) CTGTCC/TCCATA 2 -- int10--------
    rs1177296731,2
    C,F--52744429(+) ATAGCC/TGTGAA 2 -- int11Minor allele frequency- T:0.03NA 120
    rs19772971,2
    C,F,O,A--52744448(+) CTATAC/TTATGC 2 -- int119Minor allele frequency- T:0.20NA MN WA CSA EA 922
    rs15706701,2
    C,F,A,H--52744548(+) AGTGTA/GTCTTC 2 -- int135Minor allele frequency- G:0.46EA NA NS MN WA CSA 4421
    rs1860819361,2
    C--52744556(+) TTCCAA/CGGTTT 2 -- int10--------
    rs73445181,2
    C--52744566(+) TTGTAA/GGGTAT 2 -- int15Minor allele frequency- G:0.00MN 404
    rs22741301,2
    C,F--52744570(+) AAGGTA/GTAGAA 2 -- int115Minor allele frequency- G:0.34MN NA WA CSA EA 779
    rs346875131,2
    F--52744581(-) GAATTT/CGTATA 2 -- int15Minor allele frequency- C:0.01MN 404
    rs1439346671,2
    C--52744643(+) GAGTCC/TGAGTT 4 Q R mis11Minor allele frequency- T:0.00NA 4546
    rs2008167351,2
    --52744663(+) ACACTC/TGGCGT 4 P syn10--------
    rs60229891,2
    C--52744673(+) TAAGCC/TTGAAA 2 -- spa1 spl37Minor allele frequency- T:0.00NA MN 408
    rs1425379151,2
    C--52744734(+) TGTCAA/GTGGGA 2 -- int10--------
    rs22741311,2
    C,F,A,H--52744852(+) TTGTTC/TCTCTC 2 -- int115Minor allele frequency- T:0.26NA EA WA CSA 736
    rs22741321,2
    C,F,A,H--52744872(+) AGTTAA/GTTAAA 2 -- int116Minor allele frequency- N:0.00EA NA WA CSA 595
    rs1448146201,2
    --52744982(+) TGTTTC/GTTCTA 2 -- int10--------
    rs1482510991,2
    --52745056(+) TTTGTC/TTTCCC 2 -- int10--------
    rs60918251,2
    C,F,A,H--52745128(+) TCTCTG/ATGTCC 2 -- int112Minor allele frequency- A:0.42NA WA CSA EA 380
    rs22962371,2
    C,F,A,H--52745261(+) CACTGG/ACTTTC 2 -- int120Minor allele frequency- A:0.50EA NA MN WA CSA 2412
    rs22962381,2
    C,F,A--52745287(+) TTTGCC/TCAAAT 2 -- int120Minor allele frequency- T:0.50EA NA MN WA CSA 2423
    rs354569171,2
    C,F--52745407(-) AACACA/GAAACA 2 -- int16Minor allele frequency- G:0.01MN NA 406
    rs1997021421,2
    C--52745450(+) GCTCAG/AAGATA 2 -- int11Minor allele frequency- A:0.00EU 1323
    rs1500067101,2
    C,F--52745483(+) TCAGAC/TAGGCT 4 Y C mis11Minor allele frequency- T:0.00NA 4540
    rs22962391,2
    C,F,O,A,H--52745497(+) AAATAC/TGGCAT 4 P syn141Minor allele frequency- T:0.33NS EA NA MN WA CSA EU 10172
    rs1898019301,2
    C--52745498(+) AATACA/GGCATA 4 P L mis10--------
    rs60229901,2,,4
    C,F--52745501(+) ACGGCA/GTATTC 4 T M mis114Minor allele frequency- G:0.05NA MN CSA WA 5934
    rs1422824941,2
    C,F--52745522(+) CTGCCC/TGTGGC 4 Q R mis11Minor allele frequency- T:0.00NA 4546
    rs1165485331,2
    C,F--52745591(+) GATTAC/TGGGAT 4 H R mis12Minor allele frequency- T:0.00WA NA 4762
    rs777641291,2
    C,F--52745602(+) AAATTG/ATAGAG 4 /Y syn12Minor allele frequency- A:0.03EA 326
    rs1168049181,2
    --52745628(+) GTTTGC/TTGTCT 4 T A mis11Minor allele frequency- T:0.01WA 216
    rs1996686991,2
    C--52745668(+) TTGTAA/CATAAC 2 -- int10--------
    rs22962401,2
    C,F,A--52745697(+) GCTGAA/GAAAAA 2 -- int1 trp316Minor allele frequency- G:0.49EA NA MN WA CSA 2086
    rs60918261,2
    C,F,A--52745743(+) GTGAAG/ACTCTT 2 -- int111Minor allele frequency- A:0.41NA WA CSA EA 377
    rs1389958071,2
    --52745769(+) GCTACA/GCCTTT 2 -- int10--------
    rs1434646981,2
    C--52745776(+) CTTTAA/GACAAA 2 -- int10--------
    rs1471663691,2
    --52745966(+) AGTGGA/CACTAT 2 -- int10--------
    rs1404332851,2
    C--52745993(+) CTCCAC/TCTCCT 2 -- int10--------
    rs1454341921,2
    C--52746053(+) GGCATC/TCACCA 2 -- int10--------
    rs27629351,2
    C,A--52746114(+) TTGGCC/TAGGCT 2 -- int10--------
    rs1814431611,2
    --52746136(+) CTTGAC/TCTCAG 2 -- int10--------
    rs19855651,2
    C,F--52746159(-) ACTTTT/GGGAGG 2 -- int17Minor allele frequency- G:0.18NA WA CSA 132
    rs1867714861,2
    --52746164(+) AAAAGC/TGCTGG 2 -- int10--------
    rs1905455111,2
    --52746188(+) AGCCAA/GCTGTG 2 -- int10--------
    rs1181010181,2
    F--52746230(+) TGTTCG/AAACAC 2 -- int11Minor allele frequency- A:0.02EA 120
    rs794518541,2
    F--52746312(+) ACAACG/ATTTTC 2 -- int11Minor allele frequency- A:0.09WA 118
    rs1487707471,2
    --52746320(+) TTCTCA/GTTAGA 2 -- int10--------
    rs1831301071,2
    --52746358(+) GGTAAC/TGGATG 2 -- int10--------
    rs1863625541,2
    --52746443(+) AAGTTG/TCTTGA 2 -- int10--------
    rs1424352181,2
    --52746463(+) CATTCA/TTATAA 2 -- int10--------
    rs1910077161,2
    --52746557(+) AATAAA/GTGGCA 2 -- int10--------
    rs1513362051,2
    --52746687(+) CACCAA/GAAATA 2 -- int10--------
    rs7510901,2
    C,F,A--52746711(-) ACTCAG/ACTCAA 2 -- int114Minor allele frequency- A:0.28EA NA WA CSA 587
    rs7510891,2
    C,F,A,H--52746741(-) TGGGCC/ATTTGT 2 -- int116Minor allele frequency- A:0.44NA EA WA CSA 737
    rs60229921,2
    C,F--52746750(+) CACACC/GCTTTT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1821521141,2
    --52746803(+) AAAAAA/TTATTG 2 -- int10--------
    rs1877467111,2
    --52746804(+) AAAAAC/TATTGG 2 -- int10--------
    rs777759361,2
    C,F--52746808(+) ATATTG/AGTGGA 2 -- int11Minor allele frequency- A:0.04WA 118
    rs9125051,2
    C,F,A,H--52746813(+) GGTGGA/GAACAG 2 -- int128Minor allele frequency- G:0.43NS EA NA WA CSA 2713
    rs7510881,2
    C,A--52746864(-) AATACA/TTATGA 2 -- int14Minor allele frequency- T:0.15WA NA EA 360
    rs7510871,2
    C,F,O,A,H--52746889(-) TTAGCA/GAAGTA 2 -- int122Minor allele frequency- G:0.42NA EA WA CSA 1125
    rs1929067851,2
    --52746980(+) CACTCA/CCACAA 2 -- int10--------
    rs1404441371,2
    C--52747005(+) CAAGAC/TCATTC 2 -- int10--------
    rs25854391,2
    C,F,A,H--52747091(+) GCCTCA/GGCTGC 2 -- int113Minor allele frequency- G:0.16EA NA WA CSA 1856
    rs782983931,2
    F--52747159(+) GTAGCC/TATCAA 2 -- int10--------
    rs1465729061,2
    --52747165(+) ATCAAA/GTTAGA 2 -- int10--------
    rs1165505961,2
    F--52747179(+) ACTTTC/TAAATG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs1131573001,2
    F--52747266(+) CTCACC/TGCAAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1830158051,2
    --52747323(+) AGCCAC/TGTAAG 2 -- int10--------
    rs1450669571,2
    C--52747324(+) GCCACA/GTAAGG 2 -- int10--------
    rs37875531,2
    C,F--52747329(+) GTAAGA/GCAGTC 2 -- int113Minor allele frequency- G:0.49EA NA WA CSA 2004
    rs169991161,2
    C,F--52747439(+) TCCATG/AGAACA 2 -- int110Minor allele frequency- A:0.20NA WA EA 508
    rs1385599231,2
    --52747515(+) CCAGAG/TCCCAC 2 -- int10--------
    rs1488797611,2
    --52747632(+) GGCTCA/TGGCTA 2 -- int10--------
    rs25854401,2
    C,F--52747685(+) TACTAG/ATTCTG 2 -- int11Minor allele frequency- A:0.03NA 120
    rs1152613801,2
    F--52747702(+) CATCCC/GTCTTT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1885219931,2
    --52747711(+) TTCTGC/TCCCAG 2 -- int10--------
    rs1922467681,2
    --52747751(+) GCAGCA/GCTCTT 2 -- int10--------
    rs1435991801,2
    --52747844(+) AATCAC/TCTCCA 2 -- int10--------
    rs1480735771,2
    --52747878(+) ATGGCA/GTCCTC 2 -- int10--------
    rs27629361,2
    C,F,A,H--52747921(+) tttgtT/Atgttt 2 -- int16Minor allele frequency- A:0.30WA NA EA 370
    rs27629371,2
    C,A--52747997(+) ggttcA/Gtggtg 2 -- int14Minor allele frequency- G:0.14NA WA EA 360
    rs27629381,2
    C,F,A,H--52748307(+) GAGCAG/AGAGGA 2 -- int1 trp313Minor allele frequency- A:0.31NS EA WA NA CSA 787
    rs1433986891,2
    --52748453(+) TGTTGA/GACTTA 2 -- int10--------
    rs754714991,2
    C--52748475(+) GCGTGC/TGCCAC 2 -- int10--------
    rs1386799621,2
    C--52748476(+) CGTGCA/GCCACT 2 -- int10--------
    rs1846361391,2
    --52748662(+) TGTCCC/TAGACT 2 -- int10--------
    rs778158101,2
    C--52748736(+) CTTTTG/TTTTTT 2 -- int10--------
    rs665215861,2
    C--52748745(+) TTTTT-/TTTTTT/TTTTTTTTTT/TTTTT
    TTTTTTTT
    /TTTTTTTTTTTTTTTTT
    TTTTT
    4 -- int1 cds12NA 4
    rs1167691931,2
    C,F--52748769(+) TTACAG/ATAAGT 2 -- int11Minor allele frequency- A:0.07WA 118
    rs126244221,2
    H--52748792(+) TAGGCA/CCTTTG 2 -- int10--------
    rs1894009201,2
    --52748853(+) TTCTGC/TATCTT 2 -- int10--------
    rs1176141511,2
    C,F--52748864(+) GCCAGG/CGCAGA 2 -- int11Minor allele frequency- C:0.05NA 120
    rs126244401,2
    H--52748881(+) TACTGC/GTCCTG 2 -- int10--------
    rs22093141,2
    C,F,A,H--52748933(+) CATCCT/CACTCT 2 -- int117Minor allele frequency- C:0.27NS EA NA WA 2140
    rs776214991,2
    C--52749019(+) CGTGGC/TGTCTG 2 -- int14Minor allele frequency- T:0.12WA NA EA 360
    rs61271181,2
    C,F,A,H--52749024(+) CGTCTG/AGTATG 2 -- int117Minor allele frequency- A:0.21NS EA NA WA CSA 1804
    rs3717363731,2
    C--52749035(+) AGGCC-/GTGCGCTGAGGCA
    CCGTGGCATAGATGCT
    GTGCG
    2 -- int10--------
    rs1427258241,2
    C--52749038(+) CCGTGC/TGCTGA 2 -- int10--------
    rs38310621,2
    C--52749041(+) TGCGCG/TGAGGC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs61271191,2
    C,F,H--52749054(+) CGTGGC/TATAGA 2 -- int127Minor allele frequency- T:0.30NS EA NA WA CSA 2491
    rs1926414501,2
    --52749067(+) CTGTGC/TGCGGA 2 -- int10--------
    rs2002769831,2
    C--52749084(+) GTGGCA/GTCTAG 2 -- int10--------
    rs60918281,2
    C,F,A--52749182(+) AAAATG/TGTACA 2 -- int112Minor allele frequency- T:0.04NA CSA WA EA EU 1821
    rs60978161,2
    C,F,H--52749184(+) AATGGT/CACAGA 2 -- int110Minor allele frequency- C:0.10NS EA NA WA 1180
    rs60229931,2
    C,F,H--52749219(+) CAGCCC/TACCCT 2 -- int115Minor allele frequency- T:0.10NS EA NA WA CSA EU 2747
    rs1844536651,2
    C--52749261(+) GTGACA/TGCAGC 4 A syn10--------
    rs767470581,2
    C,F--52749310(+) TGTCAC/GAAAGG 4 S C mis15Minor allele frequency- G:0.01NA EA 942
    rs2018250421,2
    --52749360(+) TTGTCA/GATACA 4 I syn10--------
    rs2006244281,2
    --52749367(+) TACAAG/TCTTTG 4 D A mis10--------
    rs1891735101,2
    --52749574(+) GCAAGA/GCTTCT 2 -- int10--------
    rs1507474271,2
    --52749596(+) GTGGAC/TAGGAG 2 -- int10--------
    rs119076261,2
    C,F,H--52749897(+) ATTTAT/GAACAT 2 -- int110Minor allele frequency- G:0.28NA WA CSA EA 370
    rs1452241391,2
    C--52749952(+) CAGGC-/TCATTA 2 -- int10--------
    rs60229941,2
    C,F,A,H--52749971(+) TAATCA/CTGCTG 2 -- int119Minor allele frequency- C:0.22NS EA NA WA CSA 1847
    rs1483284411,2
    C--52750103(+) AGGTA-/CCCCTCT 2 -- int10--------
    rs38861631,2
    C,F,H--52750165(-) ACTTAC/TACATT 2 -- int123Minor allele frequency- T:0.21EA NA NS WA CSA 2101
    rs1398702251,2
    --52750226(+) TCTAGA/TCCACG 2 -- int10--------
    rs1155391201,2
    C,F--52750247(+) GATATG/ACCAGG 2 -- int11Minor allele frequency- A:0.06WA 118
    rs1811138071,2
    --52750268(+) AACTGC/TAATCT 2 -- int10--------
    rs1498375211,2
    --52750298(+) TTACAC/TTGAGG 2 -- int10--------
    rs1424308961,2
    C--52750313(+) TTCTC-/TTATTA
            
    TTATT
    2 -- int10--------
    rs1848499771,2
    --52750328(+) TATTAA/CTTATT 2 -- int10--------
    rs1888369251,2
    --52750353(+) ACAAGA/GCAACT 2 -- int10--------
    rs1448280881,2
    --52750380(+) TTGCAC/GATTTG 2 -- int10--------
    rs1814714501,2
    C--52750532(+) ACCTCC/TGCCTC 2 -- int10--------
    rs119061151,2
    C,F,H--52750884(+) AGATCA/GCTCCA 2 -- int17Minor allele frequency- G:0.10NS EA NA CSA WA 544
    rs1860042321,2
    C--52750915(+) AGACAC/TGGGGG 2 -- int10--------
    rs1999345011,2
    --52751024(+) AGGCTC/TTTGTG 4 K syn10--------
    rs1908604071,2
    C--52751033(+) TGCAGC/GTCGAC 4 D E mis10--------
    rs2021090001,2
    --52751036(+) AGCTCA/GACTGG 4 V syn10--------
    rs60688161,2
    C,F,A,H--52751063(+) CCAAAC/TGTGCT 4 T syn1 ese354Minor allele frequency- T:0.15NS EA NA MN WA CSA EU 12625
    rs169991311,2
    C--52751064(+) CAAACG/CTGCTC 4 /T /R mis1 ese33Minor allele frequency- C:0.01NA 130
    rs1149306631,2
    C,F--52751072(+) CTCATC/TATCTG 4 I M mis13Minor allele frequency- T:0.00EA NA EU 6089
    rs1823273511,2
    C--52751094(+) AATGCA/CTTTTT 2 -- int10--------
    rs1485948311,2
    C--52751137(+) TCGTTC/TTGGAA 2 -- int10--------
    rs27629391,2
    C,F,A,H--52751223(+) CACCGG/CTCCTG 2 -- int119Minor allele frequency- C:0.37NS EA NA WA CSA 1218
    rs1445242471,2
    --52751232(+) TGGGAA/GCAATG 2 -- int10--------
    rs60139051,2
    C,F,A,H--52751236(+) AGCAAT/CGCCCG 2 -- int122Minor allele frequency- C:0.22NS EA NA WA CSA 2350
    rs1163807991,2
    F--52751302(+) CTGGAT/AGTGTT 2 -- int11Minor allele frequency- A:0.01WA 118
    rs60688171,2
    C,H--52751340(+) ATTGTA/GAAAAA 2 -- int1 trp35Minor allele frequency- G:0.00NS EA NA 402
    rs60229951,2
    C,F,H--52751437(+) cacagC/Tgttta 2 -- int110Minor allele frequency- T:0.02NS EA NA WA 1100
    rs761943291,2
    C,F--52751454(+) CTACAC/TGCCAC 2 -- int13Minor allele frequency- T:0.03CSA NA EA 242
    rs1465391981,2
    --52751528(+) CAACTG/TATCTT 2 -- int10--------
    rs1859012331,2
    --52751570(+) ACAAAG/TAAATA 2 -- int10--------
    rs1908401911,2
    --52751638(+) AGGCCA/GTGAAC 2 -- int10--------
    rs1831584211,2
    --52751652(+) TACTGC/GTCAGT 2 -- int10--------
    rs761511591,2
    C,F--52751671(+) AGGAAC/TGGGGC 2 -- int12Minor allele frequency- T:0.04CSA NA 122
    rs1412225841,2
    C--52751698(+) ATCAGC/TGGGCC 2 -- int10--------
    rs1878878691,2
    --52751891(+) TTGCAC/TGAAAA 2 -- int10--------
    rs1903777081,2
    C--52751905(+) GCTCAA/GGGCTC 2 -- int10--------
    rs27629401,2
    C--52751922(+) ATTCTA/CCATTA 2 -- int12Minor allele frequency- C:0.25NA 122
    rs769661091,2
    C,F--52752000(+) TCCCCC/TGCCCC 2 -- int12Minor allele frequency- T:0.50CSA 4
    rs61271201,2
    C--52752022(+) CTGTCC/TATGGA 2 -- int14Minor allele frequency- T:0.12NA EA 244
    rs25854291,2
    C,F,A--52752023(+) TGTCCA/GTGGAA 2 -- int19Minor allele frequency- G:0.36NA CSA WA EA 371
    rs1126448651,2
    C--52752080(+) ACAGCC/TGCATA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs44506721,2
    C,F,H--52752100(+) AAATAT/CACTAA 2 -- int17Minor allele frequency- C:0.09NS EA NA 700
    rs3677314331,2
    C--52752218(+) CATCAA/GTCAAG 2 -- int10--------
    rs1512853031,2
    C--52752220(+) TCAATC/GAAGAA 2 -- int10--------
    rs1829939721,2
    C--52752351(+) TGTCAC/TTTAAA 2 -- int10--------
    rs1876681251,2
    C--52752385(+) GCAATG/TCTGGA 2 -- int10--------
    rs48099581,2
    C,F,A,H--52752410(+) TTAGCG/TGGTTA 2 -- int126Minor allele frequency- N:0.00NS EA NA WA CSA 2566
    rs1402954051,2
    --52752480(+) CCAAGA/GATATT 2 -- int10--------
    rs1503580141,2
    C--52752617(+) ACAGGA/GGATCC 2 -- int10--------
    rs1380418471,2
    C--52752621(+) GAGATC/GCAGGG 2 -- int10--------
    rs37875541,2
    C,F,H--52752652(+) GGGTCG/AGGTCT 2 -- int122Minor allele frequency- A:0.11NS EA NA CSA WA 2446
    rs37875551,2
    C,F,A,H--52752663(+) GCACTC/ATGCCT 2 -- int126Minor allele frequency- A:0.32NS EA NA WA CSA 2765
    rs1171247911,2
    C--52752791(+) TACACG/ACCAGG 2 -- int11Minor allele frequency- A:0.01NA 120
    rs22447191,2
    C,F,A,H--52752830(+) TTTTTT/CCTTCC 2 -- int1 trp316Minor allele frequency- C:0.24NS EA NA WA CSA 850
    rs1422414711,2
    --52752861(+) AGGAAC/TCTTTT 2 -- int10--------
    rs1150535511,2
    C,F--52752930(+) GAATGG/ATAAAA 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1923463601,2
    --52752953(+) TCCCCC/TGAACT 2 -- int10--------
    rs1461590081,2
    --52752972(+) TCTTGC/GTGCCA 2 -- int10--------
    rs1386102881,2
    C--52753001(+) TATGTA/GTGCAT 2 -- int10--------
    rs1427197961,2
    --52753018(+) GTATAC/TGTGGT 2 -- int10--------
    rs60978181,2
    C,H--52753064(+) TCTCAG/AGTCAC 2 -- int16Minor allele frequency- A:0.00NS EA NA 424
    rs1444935641,2
    C--52753066(+) TCAGGA/TCACTT 2 -- int10--------
    rs60229961,2
    C,H--52753100(+) ATGTCC/TTAAGA 2 -- int16Minor allele frequency- T:0.00NS EA NA 422
    rs37875571,2
    C,F,H--52753107(+) AAGAAT/CAAAGC 2 -- int120Minor allele frequency- C:0.14NS EA NA 2322
    rs60139061,2
    C,H--52753155(+) AGAACC/TTTAGC 2 -- int16Minor allele frequency- T:0.00NS EA NA 424
    rs788519531,2
    F--52753177(+) AAAAAA/CTCTAC 2 -- int11Minor allele frequency- C:0.03NA 120
    rs559728741,2
    C,F--52753265(+) GGGCCG/AAGCGT 2 -- int14Minor allele frequency- A:0.41WA CSA 124
    rs60978191,2
    H--52753408(+) attcaG/Agcatg 2 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1855812341,2
    --52753454(+) CTGAGC/GTGGGA 2 -- int10--------
    rs1480151291,2
    --52753472(+) TTGGGC/TCCAGG 2 -- int10--------
    rs1126096011,2
    C,F--52753483(+) AGGCCG/AAGGTT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs60139071,2
    C,H--52753561(+) aaTTAT/CACAGG 2 -- int16Minor allele frequency- C:0.00NS EA NA 416
    rs27629411,2
    C,F,A,H--52753624(+) TAGGAA/GACTAG 2 -- int131Minor allele frequency- G:0.45NS EA NA WA CSA 3137
    rs1508689721,2
    --52753760(+) CCCAGC/GCTTTC 2 -- int10--------
    rs1877474821,2
    --52753761(+) CCAGCC/TTTTCA 2 -- int1