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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH2 Gene

protein-coding   GIFtS: 73
GCID: GC12P112205

aldehyde dehydrogenase 2 family (mitochondrial)

 Explore 87 diseases affiliated with
ALDH2 via our new
 Human Malady Compendium 
Biological research products
for ALDH2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 2 Family (Mitochondrial)1 2     Acetaldehyde Dehydrogenase 22
ALDH-E22 3     Aldehyde Dehydrogenase, Mitochondrial2
ALDHI2 3     Liver Mitochondrial ALDH2
ALDM2 3     Nucleus-Encoded Mitochondrial Aldehyde Dehydrogenase 22
ALDH Class 22 3     EC 1.2.18
EC 1.2.1.33 8     

External Ids:    HGNC: 4041   Entrez Gene: 2172   Ensembl: ENSG000001112757   OMIM: 1006505   UniProtKB: P050913   

Export aliases for ALDH2 gene to outside databases

Previous GC identifers: GC12P111101 GC12P111726 GC12P111987 GC12P110616 GC12P110667 GC12P109217


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

Entrez Gene summary for ALDH2:
This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of
the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and
mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular
localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic
isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals
than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The
increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater
susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for
acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants
encoding distinct isoforms.(provided by RefSeq, Mar 2011)

summary for ALDH2:
Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and
heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol
oxidation. Over 550 aldehyde genes have been identified across different species, which can be split into
numerous families. There are 19 known human aldehyde dehydrogenase genes. ALDH2, a human mitochondrial
enzyme belonging to family 2, is responsible for breaking down acetaldehyde produced by ethanol. Inhibition
of aldehyde dehydrogenase therefore results in the build-up of acetaldehyde, a toxic metabolite which is
thought to be responsible for 'hangover' symptoms.

Gene Wiki entry for ALDH2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH2 gene promoter:
         PPAR-alpha   PPAR-gamma1   Sp1   p53   FOXJ2 (long isoform)   FOXJ2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ALDH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH2


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

Entrez Gene cytogenetic band: 12q24.2   Ensembl cytogenetic band:  12q24.12   HGNC cytogenetic band: 12q24.12

ALDH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P112205:  view genomic region     (about GC identifiers)

Start:
112,204,346 bp from pter      End:
112,247,784 bp from pter
Size:
43,439 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase, mitochondrial precursor  
Size: 517 amino acids; 56381 Da
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Sequence=CAA68290.1;
Type=Frameshift; Positions=Several; Sequence=CAA68290.1; Type=Miscellaneous discrepancy;
6/24 PDB 3D structures from and Proteopedia for ALDH2 (see all 24):
1CW3 (3D)        1NZW (3D)        1NZX (3D)        1NZZ (3D)        1O00 (3D)        1O01 (3D)    
Secondary accessions: Q03639 Q6IB13 Q6IV71

Explore the universe of human proteins at neXtProt for ALDH2: NX_P05091

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05091

  • 4/36 DME Specific Peptides for ALDH2 (P05091) (see all 36)
     TLELGGK  WKLGPAL  AGSRTFV  VTLELGG 

    ALDH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000681.2  NP_001191818.1  

    ENSEMBL proteins: 
     ENSP00000403349   ENSP00000261733   ENSP00000448839   ENSP00000448179   ENSP00000447231  
    Reactome Protein details: P05091
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for ALDH2
    Uscn Proteins for ALDH2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix TAS--


    ALDH2 for ontologies           About GeneDecksing



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

    ALDH2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry P05091

    ProtoNet protein and cluster: P05091

    2 Blocks protein families:
    IPB001484 Pyrokinin
    IPB002086 Aldehyde dehydrogenase


    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Similarity: Belongs to the aldehyde dehydrogenase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH

         Genatlas biochemistry entry for ALDH2:
    aldehyde dehydrogenase 2,mitochondrial,E2 isoform

    Enzyme Numbers (IUBMB): EC 1.2.1.31 2 EC 1.2.12

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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004029aldehyde dehydrogenase (NAD) activity EXP--
    GO:0004030aldehyde dehydrogenase [NAD(P)+] activity TAS8903321
    GO:0009055electron carrier activity TAS8903321
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----


    ALDH2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Aldh2tm1Kaw for ALDH2
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aldh2):
     behavior/neurological  cellular  homeostasis/metabolism  integument  skeleton 

    ALDH2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Monoamines are oxidized to aldehydes by MAOA and MAOB, producing NH3 and H2O2
    Serotonin clearance from the synaptic cleft0.33
    putrescine degradation III0.20
    Metabolism of serotonin0.33
    Ifosfamide Pathway, Pharmacodynamics0.00
    phenylalanine degradation IV (mammalian, via side chain)0.29
    2Ethanol oxidation
    Ethanol oxidation1.00
    Cyclophosphamide Pathway, Pharmacodynamics0.42
    Fatty Acid Omega Oxidation0.47
    3ethanol degradation II
    ethanol degradation II1.00
    ethanol degradation IV0.57
    oxidative ethanol degradation III0.57
    4Retinol metabolism
    Retinol metabolism1.00
    Retinol metabolism0.95
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ALDH2
        Retinol metabolism


    1 GeneGo (Thomson Reuters) Pathway for ALDH2
        Retinol metabolism

    5/10 BioSystems Pathways for ALDH2 (see all 10
        phenylalanine degradation IV (mammalian, via side chain)
    ethanol degradation IV
    serotonin degradation
    putrescine degradation III
    ethanol degradation II

    5/9        Reactome Pathways for ALDH2 (see all 9)
        Metabolism of serotonin
    Serotonin clearance from the synaptic cleft
    Transmission across Chemical Synapses
    Metabolism
    Neuronal System

    2 PharmGKB Pathways for ALDH2
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    5/14         Kegg Pathways  (Kegg details for ALDH2) (see all 14):
        Glycolysis / Gluconeogenesis
    Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Fatty acid metabolism
    Valine, leucine and isoleucine degradation

    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2


    ALDH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/305 Interacting proteins for ALDH2 (P050912, 3 ENSP000002617334) via UniProtKB, MINT, STRING, and/or I2D (see all 305)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-63389 I2D: score=5 
    SLC35F6Q8N3572, 3MINT-63388 I2D: score=5 
    UNC119Q134322, 3MINT-63385 I2D: score=5 
    CRMP1Q141942, 3MINT-63386 I2D: score=4 
    IGSF21Q96ID52, 3MINT-63387 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS8903321
    GO:0006066alcohol metabolic process TAS1306115
    GO:0006068ethanol catabolic process IEA--
    GO:0006069ethanol oxidation TAS--
    GO:0006805xenobiotic metabolic process TAS--


    ALDH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH2 for compounds           About GeneDecksing

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

    Compounds for ALDH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DisulfiramAldehyde dehydrogenase inhibitor; displays a range of other activities[97-77-8]
    Alda 1ALDH2 activator; cardioprotective[349438-38-6]

    10/43 HMDB Compounds for ALDH2 (see all 43)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    2-Propyn-1-al ----
    20-Oxo-leukotriene E420-oxo-LTE(,4) (see all 3)----
    20-oxo-leukotriene B420-carboxyleukotriene B4 ----
    3-Aminopropionaldehyde3-Aminopropanal (see all 3)352-92-1--
    3-Butyn-1-al 52844-23-2--
    3a,7a-Dihydroxy-5b-cholestan-26-al3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol ----
    3a,7a-Dihydroxycoprostanic acid3a,7a-Dihydroxy-5b-cholestan-26-oate (see all 14)17974-66-2--
    4-Acetamidobutanoic acidN-Acetyl-4-aminobutanoate (see all 11)3025-96-5--

    9 DrugBank Compounds for ALDH2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Daidzin4',7-Dihydroxyisoflavone (see all 8)552-66-9target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Crotonaldehyde-- --target--17139284 17016423
    DisulfiramDisulfuram (see all 16)97-77-8targetinhibitor17220694 16051882
    GuanidineAminomethanamidine (see all 9)113-00-8target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17488809 16961761
    Amyl NitriteAmyl nitrosum (see all 6)110-46-3enzymesubstrate20543077
    Nitric Oxide-- 10102-43-9enzymeinhibitor16242127
    NitroglycerinGlyceryl trinitrate (see all 7)55-63-0enzymesubstrate20543077

    10/61 Novoseek chemical compound relationships for ALDH2 gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetaldehyde 93.7 268 16365683 (5), 18616675 (4), 16403513 (4), 14722101 (4) (see all 99)
    daidzin 75.3 28 8433985 (3), 11563931 (3), 9050837 (3), 18613661 (3) (see all 9)
    ethanol 75.2 116 19144977 (4), 16316071 (3), 10826103 (3), 8512495 (3) (see all 58)
    propionaldehyde 67.3 2 15703303 (1), 17655326 (1)
    nitroglycerin 63.4 83 17585900 (5), 16051882 (5), 18272654 (3), 16440063 (3) (see all 21)
    retinaldehyde 62 1 10559215 (1)
    aldophosphamide 61.2 2 1610409 (2)
    rsai 58.1 2 15318112 (1), 11696658 (1)
    disulfiram 56.1 8 17980785 (2), 9605433 (2), 9354647 (2), 16051882 (1) (see all 5)
    betaine aldehyde 54.7 1 1527093 (1)

    Search CenterWatch for drugs/clinical trials and news about ALDH2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALDH2 gene (2 alternative transcripts): 
    NM_000690.3  NM_001204889.1  

    Unigene Cluster for ALDH2:

    Aldehyde dehydrogenase 2 family (mitochondrial)
    Hs.604551  [show with all ESTs]
    Unigene Representative Sequence: NM_000690
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416293 ENST00000261733(uc001tst.3 uc010syi.2) ENST00000551906
    ENST00000553044 ENST00000548536 ENST00000552234 ENST00000549106

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    Additional cDNA sequence: 

    AK223373.1 AK301375.1 AK314856.1 AY621070.1 BC002967.1 BC071839.1 CR456991.1 K03001.1 
    M26760.1 M54931.1 S80262.1 X05409.1 Y00109.1 

    24 DOTS entries:

    DT.100825560  DT.219231  DT.100825566  DT.100825563  DT.100030509  DT.100825574  DT.92458180  DT.95159151 
    DT.100825577  DT.121177828  DT.92458189  DT.95159142  DT.95159145  DT.100825568  DT.121177818  DT.121177839 
    DT.92458178  DT.95159116  DT.100825562  DT.121177767  DT.121177793  DT.95159148  DT.92018440  DT.92458173 

    24/651 AceView cDNA sequences (see all 651):

    AV647139 AI160133 NM_000690 BM740979 AI632521 AI186384 T08954 BM765860 
    AI261830 AA316218 AL548084 M26760 BX089391 CA424936 AL538754 BQ648302 
    AA995393 K03001 BQ651870 AA332335 BM919125 BU607893 BE463837 AW020236 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
    SP1:                                                                                                                        
    SP2:              -                                                                                                         
    SP3:              -                 -     -     -                                                                           
    SP4:                                                                                            -                           


    ECgene alternative splicing isoforms for ALDH2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGGTTGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ALDH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    N2/LSB induced-cells (Generation of midbra...)

    See ALDH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH2

    SOURCE GeneReport for Unigene cluster: Hs.604551
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Stem Cells in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH2

    (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

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALDH2 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ALDH21 aldehyde dehydrogenase 2 family (mitochondrial) 76.55(n)
    85.85(a)
      416880  XM_415171.3  XP_415171.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    81(a)
    1 ↔ 1
    GL343282.1(19405-33915)
    zebrafish
    (Danio rerio)
    Actinopterygii AY398308.12   -- 76.43(n)    AY398308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523
    Aldh1
    aldehyde dehydrogenase (NAD+)3
    Aldehyde dehydrogenase1
    68(a)3
    68.27(n)1
    71.54(a)1
      30B33
    342561  NM_135441.21  NP_609285.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-11 Protein ALH-1 61.82(n)
    67.93(a)
      175691  NM_065680.4  NP_498081.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD5(YER073W)4
    ALD41
    Mitochondrial aldehyde dehydrogenase, involved in regulation more4
    Ald4p1
    55.81(n)1
    51.8(a)1
      5(304030-305592)4
    8545561  NP_015019.11  8568044 
     NP_010996.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2B41 aldehyde dehydrogenase 2B4 60.03(n)
    63.04(a)
      823955  NM_114669.3  NP_190383.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 7)
    aldehyde dehydrogenase, putative, expressed
    (see all 7)
    55(a)
    53(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    6(9090017-9095680)
    1(23112601-23118671)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria aldB6
    aldehyde dehydrogenase B
    40(a)
    possible ortholog
    Chromosome(3752996-3754534)


    ENSEMBL Gene Tree for ALDH2 (if available)
    TreeFam Gene Tree for ALDH2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH2 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH16A12  ALDH8A12  
    ALDH9A12  ALDH1L12  ALDH1A32  
    13 SIMAP similar genes for ALDH2 using alignment to 10 protein entries:     ALDH2_HUMAN (see all proteins):
    ALDH1A2    ALDH1B1    ALDH1A1    ALDH1A3    DKFZp686G1675    ALDH1L2
    ALDH1L1    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1    ALDH7A1
    ALDH3A1

    ALDH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Polymorphism: Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol
    [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and
    South American Indians, as compared to Caucasians


    676/678 NCBI SNPs in ALDH2 are shown (see all 678    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6711,2
    C,F,H,drug-response109255106(+) ACACTG/AAAGTG 4 /K /E mis1 ese326Minor allele frequency- A:0.12MN CA NS EA NA 2426
    rs557371281,2
    C,--109216340(+) GCCTCA/GCCTTC 2 -- us2k12Minor allele frequency- G:0.09WA 120
    rs779807651,2
    C,F,--109217096(+) GAAGTG/AGGGCC 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs71368901,2
    A--109217542(+) gcaggC/Tgcctg 2 -- us2k10--------
    rs758120271,2
    C,--109217847(+) CCTGGC/TCTTTG 2 -- us2k12Minor allele frequency- T:0.08WA 120
    rs64903011,2
    C,A--109218393(+) TTGCGC/TGCTGC 4 R syn1 ese30--------
    rs120995901,2
    C,--109219142(+) GTGGTC/GCATTT 2 -- int12Minor allele frequency- G:0.21WA 120
    rs778191451,2
    C,--109219239(+) AATTGG/ATTATG 2 -- int12Minor allele frequency- A:0.07WA 120
    rs1168188401,2
    C,F,--109219401(+) CTGCAC/TAGCCT 2 -- int11Minor allele frequency- T:0.02WA 118
    rs751620231,2
    C,F,--109219657(+) ACCACC/TGATCC 2 -- int11Minor allele frequency- T:0.07EA 120
    rs763261411,2
    C,--109220248(+) AGGTGC/TGGTGG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs755840291,2
    C,--109220858(+) ACCCCA/GTTTTA 2 -- int12Minor allele frequency- G:0.09WA 120
    rs785601311,2
    C,--109220900(+) GTGTCT/CCTTGT 2 -- int12Minor allele frequency- C:0.09WA 120
    rs782747831,2
    C,--109221027(+) AGCTCG/CCCGTC 2 -- int12Minor allele frequency- C:0.09WA 120
    rs761261691,2
    C,--109221097(+) TCCAAG/CGACCA 2 -- int12Minor allele frequency- C:0.09WA 120
    rs1162135911,2
    C,F,--109221127(+) GGCGCC/TGTGCT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1124946771,2
    --109222198(+) CCCACG/CACCAC 2 -- int11Minor allele frequency- C:0.50CSA 2
    rs116156951,2
    H--109224074(+) tttttG/Tggttt 2 -- int1 trp30--------
    rs116090931,2
    H--109224076(+) ttttgG/Tttttt 2 -- int10--------
    rs123128671,2
    C,H--109224186(+) TCCTCC/TTGCGT 2 -- int13Minor allele frequency- T:0.01NS NA 100
    rs769245191,2
    C,--109224755(+) GTGACA/GGGGCT 2 -- int12Minor allele frequency- G:0.09WA 120
    rs802640181,2
    C,--109224806(+) ATTTAC/TATGTT 2 -- int12Minor allele frequency- T:0.09WA 120
    rs116146841,2
    H--109225190(+) CTCCAG/CAAGTG 2 -- int14Minor allele frequency- C:0.00NS EA 420
    rs340839591,2
    C,F,--109225290(+) GGGGAC/TGCATA 2 -- int17Minor allele frequency- T:0.03MN WA 528
    rs351548961,2
    C,F,--109225354(+) CAAACC/TGTAAG 2 -- int18Minor allele frequency- T:0.02MN NA WA 530
    rs593707321,2
    C,--109225556(+) CCCCAA/GCTAAC 2 -- int12Minor allele frequency- G:0.09WA 120
    rs1901107041,2
    C,--109226115(+) CCCTCA/GACCAC 2 -- int10--------
    rs758524341,2
    C,F,--109226355(+) AGGAAC/TGNNNN 2 -- int11Minor allele frequency- T:0.04NA 120
    rs560779841,2
    C,--109226532(+) ACAGCA/GGGTAG 2 -- int12Minor allele frequency- G:0.08WA 120
    rs593008431,2
    C,F,--109226804(+) TCCAAT/CTTTTA 2 -- int13Minor allele frequency- C:0.09WA CSA 122
    rs734204821,2
    C,--109226842(+) AATATG/ATAGGA 2 -- int12Minor allele frequency- A:0.11WA 120
    rs771486081,2
    C,--109227446(+) GCCCAC/GCTCTC 2 -- int12Minor allele frequency- G:0.09WA 120
    rs1116899141,2
    C,--109227580(+) ACGAGA/GGNNNN 2 -- int12Minor allele frequency- G:0.04NA 122
    rs758099691,2
    --109227775(+) GCATGG/ATGGCG 2 -- int11Minor allele frequency- A:0.01WA 118
    rs786173661,2
    C,--109227781(+) TGGCGC/GACAGC 2 -- int12Minor allele frequency- G:0.08WA 120
    rs1136481461,2
    C,--109228056(+) CCTCCG/ATCTCC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs608267631,2
    C,--109228858(+) CCTACT/CCAATG 2 -- int12Minor allele frequency- C:0.09WA 120
    rs750765961,2
    C,--109229259(+) GCACAA/GCTGCG 2 -- int12Minor allele frequency- G:0.09WA 120
    rs760817021,2
    C,--109229384(+) ATGGCG/ATTGGG 2 -- int12Minor allele frequency- A:0.09WA 120
    rs782751731,2
    F,--109231160(+) TTATTT/GTTATT 2 -- int11Minor allele frequency- G:0.09WA 118
    rs752851231,2
    C,--109232034(+) AGCCCT/GAGAAC 2 -- int12Minor allele frequency- G:0.09WA 120
    rs734204831,2
    C,--109232098(+) ATAATC/TTAGGG 2 -- int12Minor allele frequency- T:0.14WA 120
    rs770397191,2
    C,--109232355(+) GTGGAG/ATGAGA 2 -- int11Minor allele frequency- A:0.50WA 2
    rs734204851,2
    C,--109232479(+) CTTCTG/AGGGAG 2 -- int11Minor allele frequency- A:0.50WA 2
    rs110660231,2
    C,H--109233324(+) ATTCGT/ACTTCT 2 -- int16Minor allele frequency- A:0.00NS EA NA 424
    rs73120551,2
    C,F,H,--109233634(+) CAATCG/AAAACT 2 -- int116Minor allele frequency- A:0.17NS EA NA WA 1614
    rs758792231,2
    C,--109233872(+) CAGGCG/ACAGTG 2 -- int11Minor allele frequency- A:0.50WA 2
    rs786024371,2
    C,--109234180(+) AAATTA/GTCCGG 2 -- int12Minor allele frequency- G:0.09WA 120
    rs750248921,2
    C--109234416(+) TTTTCA/TAGGAA 2 -- int10--------
    rs1129240011,2
    C,--109235060(+) GCCACC/TGCACC 2 -- int12Minor allele frequency- T:0.11WA 120
    rs1135399021,2
    F--109236418(+) CTCACC/TCTGGG 2 -- int11Minor allele frequency- T:0.50CSA 4
    rs1167581121,2
    C,F,--109236430(+) TTGCAC/TCAGCC 2 -- int11Minor allele frequency- T:0.03WA 118
    rs133061651,2
    C--109236613(+) GTATGG/AGCTCA 2 -- int12Minor allele frequency- A:0.00NA 4
    rs784396341,2
    C,F,--109237403(+) ATATTG/CTCTTT 2 -- int13Minor allele frequency- C:0.09WA CSA 122
    rs73118521,2
    C,F,A,H,--109238761(+) GTGGCC/GAAGGG 2 -- int17Minor allele frequency- G:0.03NS EA NA WA 530
    rs570467331,2
    --109239193(+) TACTCA/GGGAGG 2 -- int10--------
    rs116102581,2
    H--109239243(+) tgcagA/Tgagct 2 -- int10--------
    rs732056051,2
    C,--109239343(+) TGGGCA/GTCTTG 2 -- int10--------
    rs789918941,2
    F,--109239591(+) GCCTCG/AACTGC 2 -- int11Minor allele frequency- A:0.11WA 118
    rs762117361,2
    C,F,--109239701(+) CCCCAG/AATGTC 2 -- int13Minor allele frequency- A:0.09WA CSA 122
    rs791596821,2
    C,F,--109240686(+) AGAAAA/GAAAAA 2 -- int13Minor allele frequency- G:0.10WA CSA 122
    rs773842371,2
    C,F,--109241156(+) GCCAGA/GCTCAT 2 -- int13Minor allele frequency- G:0.10WA CSA 124
    rs750290201,2
    C,F,--109241380(+) GTGTCA/TCGGAC 2 -- int13Minor allele frequency- T:0.10WA CSA 124
    rs799860871,2
    C--109241595(+) GTTGCA/CGTGGA 2 -- spa10--------
    rs116133511,2
    H--109242154(+) ctgcaA/Gtgagc 2 -- int10--------
    rs1115409401,2
    C,F--109242536(+) CATTGC/TCTCCC 4 A V mis12Minor allele frequency- T:0.00CSA NA 4540
    rs133061661,2
    C,F,H,--109242696(+) TCCTCC/TAGGAC 2 -- int1 trp38Minor allele frequency- T:0.02NS EA NA 888
    rs1136487531,2
    C,--109242898(+) AGGACT/AGCCAT 2 -- int12Minor allele frequency- A:0.09CSA WA 121
    rs750783191,2
    C--109243327(+) CGATAG/TTGAGT 2 -- spd10--------
    rs769777431,2
    C,--109243578(+) CATCAC/TGCCCT 2 -- int12Minor allele frequency- T:0.09WA 120
    rs10621361,2
    C,F,H--109243872(+) TGTGGA/TGCGGA 4 E V mis1 ese37Minor allele frequency- T:0.00MN NS EA NA 600
    rs732056061,2
    C,--109246227(+) ATTTTA/TTGCAA 2 -- int10--------
    rs1113249031,2
    C,--109246724(+) TACAGG/TTGTGA 2 -- int10--------
    rs1137731601,2
    --109246823(+) GATCTC/TGGCTC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs118347801,2
    C,F,H,--109247278(+) gtggtG/Aggcgc 2 -- int12Minor allele frequency- A:0.07NA 124
    rs758985751,2
    C,--109247432(+) TTTTTT/AAAAAA 2 -- int11Minor allele frequency- A:0.50WA 2
    rs116132311,2
    C,F,H--109247471(+) gatgcG/Ctgcct 2 -- int15Minor allele frequency- C:0.01NS EA NA 424
    rs1124093411,2
    --109247602(+) AAAAGG/TTATTT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs752882891,2
    C,F,--109247669(+) TGCACA/GCACAG 2 -- int11Minor allele frequency- G:0.07WA 118
    rs752626841,2
    C,--109247718(+) GGTGTG/AGTGGC 2 -- int12Minor allele frequency- A:0.09WA 120
    rs794815771,2
    C,F,--109247991(+) TGTCGC/ACCTTC 2 -- int11Minor allele frequency- A:0.10WA 118
    rs1135546581,2
    --109248358(+) CATCTC/TTCTGT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1120488651,2
    F--109249528(+) TGTCTG/CGGAGA 2 -- int12Minor allele frequency- C:0.50CSA 4
    rs772514531,2
    C,--109250165(+) AGCCAC/TGCCTG 2 -- int12Minor allele frequency- T:0.07WA 120
    rs788094351,2
    C,--109250475(+) CAGCTG/AATTTT 2 -- int11Minor allele frequency- A:0.50WA 2
    rs799616381,2
    C,F,--109250679(+) AACTCA/C/GTAGAC 2 -- int14WA CSA 123
    rs793231831,2
    C,--109250849(+) CGGGGC/TGCACA 2 -- int12Minor allele frequency- T:0.10WA 120
    rs744294091,2
    C,F,--109251388(+) CTCTGT/CGGTGC 2 -- int13Minor allele frequency- C:0.10WA CSA 124
    rs795960481,2
    C,--109251724(+) CCACCA/GCACCT 2 -- int12Minor allele frequency- G:0.09WA 120
    rs600391711,2
    C,F,--109252071(+) TGTCCG/ATCTGT 2 -- int11Minor allele frequency- A:0.05WA 118
    rs110660241,2
    C,A,H,--109252433(+) aacacG/Atggga 2 -- int11Minor allele frequency- A:0.50WA 2
    rs560591461,2
    --109253841(+) AACACA/GGTGAA 2 -- int10--------
    rs734204921,2
    C,,--109254729(+) AAAAAA/TTTATT 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs1116275711,2
    C,F,--109254812(+) GATGTG/AGAGGT 2 -- int14Minor allele frequency- A:0.08NA CSA WA 242
    rs749388321,2
    C,F,--109254937(+) ATACAG/CGGGGT 2 -- int11Minor allele frequency- C:0.04WA 118
    rs10649331,2
    C--109255063(+) TCGGGG/AAGTGG 4 /G syn12Minor allele frequency- A:0.00MN NA 186
    rs619412781,2
    C,--109256076(+) CCTGAA/GGGACC 2 -- int12Minor allele frequency- G:0.06NA 122
    rs764396301,2
    C,F,--109256506(+) TTGGAA/GTNNNN 2 -- int11Minor allele frequency- G:0.03NA 120
    rs169416671,2
    C,F,H,--109257753(+) GCTCAC/TTGGAA 2 -- int124Minor allele frequency- T:0.09NA NS EA WA CSA 2456
    rs110660271,2
    C,F,--109258428(+) aaaacG/Agaaaa 2 -- int1 trp34Minor allele frequency- A:0.10NA WA 242
    rs752824981,2
    C--109260686(-) GTGACA/C/GTGTAA 2 -- spa11CSA 1
    rs583528181,2
    C,F,--109260872(+) TGAATT/CGATAA 2 -- ut313Minor allele frequency- C:0.07WA CSA 124
    rs776030301,2
    --109261011(+) TAACTC/TGAGTT 2 -- ut310--------
    rs1496537531,2
    --112202787(+) CTAAT-/TGTG  
            
    TGTGT
    2 -- us2k10--------
    rs1432594941,2
    --112202883(+) GGTCTC/TGAACT 2 -- us2k10--------
    rs1889461871,2
    --112202908(+) ATCTAA/CCCGCC 2 -- us2k10--------
    rs1475133281,2
    --112202911(+) TACCCA/GCCTCA 2 -- us2k10--------
    rs1930564811,2
    --112202968(+) AGCCTA/CATTTC 2 -- us2k10--------
    rs1850420171,2
    --112203199(+) TGGCAC/TGGTGG 2 -- us2k10--------
    rs1882502571,2
    --112203256(+) CACCTA/GAGGTC 2 -- us2k10--------
    rs1916041911,2
    --112203635(+) AGGCAA/TGGTTG 2 -- us2k10--------
    rs1164223121,2
    C,F,--112203802(+) GGCGCG/AGTGGC 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs710831891,2
    C--112204073(+) AAAAAA/-GAATA 2 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1839748191,2
    --112204169(+) GCCCTG/TGCCGC 2 -- us2k10--------
    rs1400367851,2
    --112204280(+) CATTCA/CGGTCT 2 -- us2k10--------
    rs1895983231,2
    --112204307(+) ACCATA/GGTACT 2 -- us2k10--------
    rs1816497971,2
    --112204328(+) GTGCCA/GTCTGC 2 -- us2k10--------
    rs8862051,2
    C,F,A,H,--112204427(-) GACCTC/TCCCGG 2 -- us2k140Minor allele frequency- T:0.46MN EU NA EA NS WA CSA 4312
    rs1499114011,2
    --112204484(+) CATTGA/GGGGCT 2 -- us2k10--------
    rs2003691801,2
    --112204858(+) CAGGCC/TGTGCC 4 A syn10--------
    rs1160260681,2
    C,F,--112205224(+) CCCACC/ACTCAC 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1868457301,2
    --112205392(+) GGCGAA/GGCCAC 2 -- int10--------
    rs1486207771,2
    C,--112205647(+) TTATGA/GAAGAG 2 -- int10--------
    rs1420501441,2
    --112206060(+) CCACCA/GATCCT 2 -- int10--------
    rs1403929821,2
    --112206260(+) AAAATA/CTTTTG 2 -- int10--------
    rs1903830461,2
    --112206261(+) AAATCC/TTTTGC 2 -- int10--------
    rs1441276361,2
    --112206510(+) AGGTGC/TGGTGG 2 -- int10--------
    rs1464866221,2
    --112206630(+) ACTAAA/GAAAGT 2 -- int10--------
    rs22833541,2
    C,F,--112206685(+) TGGGAG/AGCCGA 2 -- int17Minor allele frequency- A:0.24EU NA CSA EA 226
    rs1818521341,2
    --112206779(+) AAGACC/GCTGTC 2 -- int10--------
    rs47679391,2
    C,F,A,H,--112206895(+) CAGATA/GTGCAC 2 -- int123Minor allele frequency- G:0.47NS EA NA WA CSA 2347
    rs1504327021,2
    --112206964(+) GGAGCC/TGAGTC 2 -- int10--------
    rs568845021,2
    C,F,--112207300(+) GTGTGT/ACTCTT 2 -- int16Minor allele frequency- A:0.26NA CSA WA EA 364
    rs1864543601,2
    --112207309(+) TTGTAA/GACATT 2 -- int10--------
    rs1434869351,2
    C,--112207343(+) CAGCA-/AGAGAGA 2 -- int10--------
    rs1382026081,2
    --112207358(+) AGAGAA/GAATGC 2 -- int10--------
    rs114423811,2
    C--112207377(+) TTTTT-/TAACAT 2 -- int1 trp30--------
    rs1491453631,2
    --112207517(+) TTCTAC/TTCTGG 2 -- int10--------
    rs1463549471,2
    --112208433(+) TGACTA/CATTTT 2 -- int10--------
    rs1895432721,2
    --112208459(+) ATTTTA/TTTTAT 2 -- int10--------
    rs1822349831,2
    --112208526(+) TCACTC/GTAACC 2 -- int10--------
    rs1863678321,2
    --112208527(+) CACTCC/TAACCT 2 -- int10--------
    rs1912779791,2
    --112208823(+) AAGCAA/GTCTTC 2 -- int10--------
    rs748494501,2
    C,F,--112208838(+) CTTGGC/GCTCCC 2 -- int14Minor allele frequency- G:0.20NA CSA 126
    rs790731421,2
    C,--112208997(+) GAGTTC/TGAGAC 2 -- int11Minor allele frequency- T:0.50WA 2
    rs1833856551,2
    --112209114(+) GAGGAG/TTGCTT 2 -- int10--------
    rs1475297791,2
    --112209267(+) AGCTCA/GAGCTC 2 -- int10--------
    rs1883095491,2
    --112209308(+) AGTTAC/TAGGAG 2 -- int10--------
    rs47679441,2
    C,F,A,H,--112209341(+) AGTTAC/TAAATC 2 -- int124Minor allele frequency- T:0.23NS EA NA WA 2510
    rs1923129331,2
    --112209565(+) ATAAGG/TGTAGT 2 -- int10--------
    rs1833561661,2
    --112209673(+) TGAGGC/TGGGCA 2 -- int10--------
    rs1481451451,2
    --112209679(+) GGGCAA/GATTGC 2 -- int10--------
    rs2003465651,2
    --112209700(+) GAGTT-/CGAG  
      ACCAGC
    CTGAC
    2 -- int10--------
    rs1419375581,2
    --112209732(+) ACCCTA/GACTCT 2 -- int10--------
    rs1505436011,2
    --112209851(+) TGAGCC/TGAGAT 2 -- int10--------
    rs1395147081,2
    --112210134(+) TTGATC/TGTACA 2 -- int10--------
    rs1879065721,2
    --112210314(+) CGGGTA/GCCGCC 2 -- int10--------
    rs1496774801,2
    --112210534(+) GTGCAA/GTGGCA 2 -- int10--------
    rs1158402151,2
    F,--112210581(+) GAAGCG/AATCCT 2 -- int11Minor allele frequency- A:0.08WA 118
    rs341086391,2
    C--112210747(+) AAAAA-/ACAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1461853171,2
    --112210828(+) GAGGCC/TGAGGC 2 -- int10--------
    rs1912524911,2
    --112210874(+) ATATGA/TTGAAA 2 -- int10--------
    rs1441610931,2
    --112211013(+) GACACC/TGCCCG 2 -- int10--------
    rs1843991941,2
    --112211266(+) CACCTA/GTTTTC 2 -- int10--------
    rs1465072481,2
    --112211276(+) CCATCA/GGGCCC 2 -- int10--------
    rs1897234131,2
    --112211655(+) ATTTAC/TTGAAT 2 -- int10--------
    rs1926297951,2
    --112211811(+) GGACGC/TATAGG 2 -- int10--------
    rs22381511,2
    C,F,O,A,H,--112211833(+) CTGGCC/TCAGGG 2 -- int140Minor allele frequency- T:0.22EA EU NA NS MN WA CSA 4773
    rs1850522131,2
    --112211884(+) CAGAAC/GAAGTT 2 -- int10--------
    rs1490939061,2
    --112211898(+) ACCGCA/GCCTGT 2 -- int10--------
    rs1421533221,2
    --112212096(+) GGATTA/GTGTGT 2 -- int10--------
    rs1899850851,2
    --112212232(+) AAAGAA/GCACAT 2 -- int10--------
    rs1510750601,2
    --112212281(+) AGCTTA/GCTCAC 2 -- int10--------
    rs1815689471,2
    --112212601(+) CTCTGA/GGCACT 2 -- int10--------
    rs1893883311,2
    --112212637(+) TCGACC/TACCAC 2 -- int10--------
    rs1409843561,2
    --112212863(+) TGACCA/GTGTTG 2 -- int10--------
    rs1807438981,2
    --112212916(+) AATAAC/TGTCCA 2 -- int10--------
    rs1858725131,2
    --112213485(+) ACATCA/CCCCCA 2 -- int10--------
    rs1911581811,2
    --112213631(+) ACTTTC/GGCAGA 2 -- int10--------
    rs1829531711,2
    --112213685(+) GGGAAA/GCCACT 2 -- int10--------
    rs1867492171,2
    --112213687(+) GAAGCA/CACTGA 2 -- int10--------
    rs1904548891,2
    --112213746(+) TCCAGC/TGTCCT 2 -- int10--------
    rs1830584991,2
    --112214044(+) AGGGAA/GCAACA 2 -- int10--------
    rs1877401611,2
    --112214096(+) GCTACA/GAGAGA 2 -- int10--------
    rs1464680871,2
    --112214163(+) CTGTAA/CACTCG 2 -- int10--------
    rs1925801381,2
    --112214194(+) ATCAGC/TCCCCA 2 -- int10--------
    rs1841580751,2
    --112214299(+) GTGGCA/GCACAG 2 -- int10--------
    rs746144781,2
    C--112214308(+) AGCTGA/TAATCC 2 -- int10--------
    rs1478831201,2
    --112214355(+) AGCACA/CGGAGT 2 -- int10--------
    rs22381521,2
    C,F,H,--112214459(+) GATCTG/TTTTGG 2 -- int117Minor allele frequency- T:0.23NA EA NS CSA WA 1144
    rs1471238091,2
    --112214692(+) CCATGC/TTGTCC 2 -- int10--------
    rs1875723491,2
    --112215082(+) AAATGA/GGAACA 2 -- int10--------
    rs1928132321,2
    --112215416(+) CCCGTA/GAGCCC 2 -- int10--------
    rs1496270281,2
    --112215892(+) CTGCCA/GTCGTC 2 -- int10--------
    rs1433376021,2
    --112216094(+) CTGTAA/GTCCCA 2 -- int10--------
    rs1845717181,2
    --112216297(+) TGAGCC/TGGGAT 2 -- int10--------
    rs1870593481,2
    --112216575(+) TGGAGG/TGCAGT 2 -- int10--------
    rs1483400761,2
    --112216907(+) CTCCCA/CCCTTG 2 -- int10--------
    rs116137131,2
    C,F,H,--112217138(+) ACAGGC/TGCATG 2 -- int16Minor allele frequency- T:0.21NA CSA WA EA 364
    rs1919446191,2
    --112217144(+) GCATGC/TGACCA 2 -- int10--------
    rs116096281,2
    C,F,H,--112217208(+) AGGTTG/AGTCTC 2 -- int114Minor allele frequency- A:0.21NS EA NA CSA WA 1104
    rs1416410651,2
    --112217376(+) CAGCTC/TGGTAT 2 -- int10--------
    rs1844135741,2
    --112217528(+) CGTCAA/CCTGTA 2 -- int10--------
    rs1162121581,2
    C,F,--112217576(+) TGCCAG/AGACAC 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1462045881,2
    --112217620(+) GGAGAC/TGTCTT 2 -- int10--------
    rs1890502961,2
    --112217939(+) TGATCC/TGCCCA 2 -- int10--------
    rs1391110051,2
    --112217940(+) GATCCA/GCCCAC 2 -- int10--------
    rs1818320611,2
    --112217986(+) ACACCA/GCACGC 2 -- int10--------
    rs1423317531,2
    --112218162(+) GAACCA/GTCTTG 2 -- int10--------
    rs1145880871,2
    C,--112218356(+) CATTCC/TGGACT 2 -- int10--------
    rs1891552831,2
    --112218357(+) ATTCCA/GGACTC 2 -- int10--------
    rs1505957301,2
    --112218838(+) AGCTTA/TAGAGG 2 -- int10--------
    rs1809083411,2
    --112218865(+) CCATGA/GTCACG 2 -- int10--------
    rs1497294151,2
    --112218928(+) AAAAAA/CAATAA 2 -- int10--------
    rs1861900961,2
    --112218955(+) TAGTTA/CTCACA 2 -- int10--------
    rs1455679701,2
    --112219270(+) CCAGAC/TGAGTA 2 -- int10--------
    rs1484486911,2
    --112219406(+) GAGATA/GAGAAA 2 -- int10--------
    rs1447398561,2
    --112219584(+) GGCCTA/GTGCTT 2 -- int10--------
    rs1902945251,2
    --112219607(+) CTACAA/CCACTC 2 -- int10--------
    rs133061631,2
    C,H,--112219696(+) GTCCTG/AAGAAC 2 -- int18Minor allele frequency- A:0.00NS EA NA 850
    rs2007570031,2
    C--112219724(+) TAGATT/GTTCAT 4 /M /I mis11Minor allele frequency- G:0.00EU 1319
    rs1415743141,2
    C,F,--112219728(+) TTTTCA/GTAAAC 4 I V mis11Minor allele frequency- G:0.00NA 4550
    rs1470355151,2
    --112219905(+) CTTTAC/TCATAT 2 -- int10--------
    rs1815044601,2
    --112220246(+) TGGCCC/GGGCGC 2 -- int10--------
    rs1511276081,2
    --112220250(+) CGGGCG/TCAGTG 2 -- int10--------
    rs1173589001,2
    C,F,--112220414(+) CCAGGC/TGCAGT 2 -- int11Minor allele frequency- T:0.02NA 120
    rs1389035981,2
    --112220612(+) GAACCC/TGGGAG 2 -- int10--------
    rs1859999361,2
    --112220794(+) GCTGAA/TGTCTG 2 -- int10--------
    rs1403472091,2
    C,F--112220981(+) GGCAGT/CGAAGG 3 /A /V int1 mis11Minor allele frequency- C:0.00NA 4550
    rs1996244201,2
    --112220993(+) CGCCCA/GGGCCG 3 Q R int1 mis10--------
    rs2015823421,2
    C,--112221016(+) GCTCAA/CCTTGG 3 T P mis1 int10--------
    rs1409190901,2
    C,F--112221025(+) GGCGCC/TGCATG 3 R C mis1 int11Minor allele frequency- T:0.00NA 4514
    rs133061641,2
    C,F,H,--112221055(+) GGCTGC/TTGAAC 3 L syn1 int1 ese323Minor allele frequency- T:0.00MN NS EA WA NA EU 8927
    rs1470862071,2
    C--112221070(+) TGGCCG/CATCTG 3 /H /D int1 mis11Minor allele frequency- C:0.00NA 4512
    rs1907648691,2
    --112221082(+) TCGAGC/TGGGAC 3 R W int1 mis10--------
    rs1838709671,2
    --112221166(+) CTGTGA/GACAGC 2 -- int10--------
    rs794636161,2
    C,--112221353(+) CTGTCA/GCCTAG 2 -- int12Minor allele frequency- G:0.25NA 4
    rs1423998181,2
    --112221411(+) TGGGTG/TCAAGT 2 -- int10--------
    rs1890763391,2
    --112221484(+) AATTTC/GTGTAT 2 -- int10--------
    rs1148829641,2
    F,--112221538(+) CCAACC/TCTTGG 2 -- int11Minor allele frequency- T:0.08WA 118
    rs1929041581,2
    C--112221787(+) TCTCCC/TCCCAG 2 -- int10--------
    rs1177389481,2
    C,F,--112222172(+) GCACTG/ACAGTC 2 -- int11Minor allele frequency- A:0.02EA 120
    rs1438667241,2
    --112222428(+) TTATTA/GTTATT 2 -- int10--------
    rs46483281,2
    C,F,H,--112222788(+) CCCAGC/TACCTG 2 -- int126Minor allele frequency- T:0.21EU NA EA NS CSA WA 2990
    rs38328681,2
    C,--112222867(-) GCCAG-/GCAGGA 2 -- int10--------
    rs1486006661,2
    --112222873(+) CTGGCC/GCCCTT 2 -- int10--------
    rs1153504021,2
    --112222897(+) GCCTTT/CGGAGA 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1122308471,2
    C,--112222940(+) TTTGGC/-GGCAC 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1906332881,2
    C,--112223065(+) TTTCTC/TCTCAG 2 -- int10--------
    rs1384435411,2
    C,F--112223100(+) AAGCCC/ATATGT 4 /P syn12Minor allele frequency- A:0.00NA EU 5875
    rs1413733241,2
    C,--112223130(+) TTGGAC/GATGGT 4 D E mis11Minor allele frequency- G:0.00NA 4552
    rs1148001191,2
    C,F,--112223254(+) AGAGCG/ACGGTA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1507895171,2
    --112223310(+) ATTACG/TTGAGG 2 -- int10--------
    rs1829118821,2
    --112223396(+) GGTGGC/TGCACA 2 -- int10--------
    rs770203691,2
    C--112223539(+) AAAAAC/GAAAAA 2 -- int10--------
    rs746791281,2
    C--112223541(+) AAACAA/GAAAAT 2 -- int10--------
    rs803427651,2
    C--112223542(+) AACAAA/GAAATG 2 -- int10--------
    rs1869036861,2
    --112223559(+) TTACAA/GAAATT 2 -- int10--------
    rs1915936871,2
    --112224072(+) GTCTCA/GCTCTG 2 -- int10--------
    rs1397021471,2
    --112224096(+) AGTGCA/GGTGGT 2 -- int10--------
    rs1452169631,2
    --112224202(+) TGCCCA/GGCTGA 2 -- int10--------
    rs1479159481,2
    --112224331(+) CACCAC/TGCCTG 2 -- int10--------
    rs1399687321,2
    --112224439(+) TGACCA/TTCTGG 2 -- int10--------
    rs1841174601,2
    --112224871(+) AGGCAA/GTAGTG 2 -- int10--------
    rs1873340971,2
    --112224938(+) CCAGGA/CGGTGG 2 -- int10--------
    rs1499993281,2
    --112224964(+) GAGATC/TGTGCC 2 -- int10--------
    rs1451955691,2
    --112225043(+) CACTGA/GGCCCA 2 -- int10--------
    rs1491306551,2
    --112225245(+) TTGTAA/TTGCCA 2 -- int10--------
    rs1932000961,2
    --112225283(+) TGGCCC/TTGGTT 2 -- int10--------
    rs1853765381,2
    --112225569(+) GGTGGC/TTCATG 2 -- int10--------
    rs1906724801,2
    --112225621(+) ACGAGA/GTCAGG 2 -- int10--------
    rs107746371,2
    C,F,A,H,--112225927(+) GAGAAT/CCGCTT 2 -- int112Minor allele frequency- C:0.03NS EA NA WA CSA 437
    rs1406775451,2
    --112225928(+) AGAACC/TGCTTG 2 -- int10--------
    rs1838649891,2
    --112225933(+) CGCTTC/GAACCT 2 -- int10--------
    rs1883851501,2
    --112226119(+) GAGACA/GTTTTT 2 -- int10--------
    rs1811990191,2
    --112226401(+) TGTCAG/TGTAGA 2 -- int10--------
    rs108499701,2
    C,F,A,H,--112226433(+) GGAGGG/AAAGCT 2 -- int1 trp317Minor allele frequency- A:0.29NS EA NA WA 2284
    rs1164483971,2
    --112226492(+) CCAGGG/TTCACA 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1457907491,2
    --112226789(+) GGGCAA/GCTGAG 2 -- int10--------
    rs1379587881,2
    --112227190(+) TACTTG/TGGAGG 2 -- int10--------
    rs1409122351,2
    --112227302(+) AAAAAA/TAAAAA 2 -- int10--------
    rs1858903321,2
    --112227314(+) GAAAAC/GAAAAG 2 -- int10--------
    rs1904631901,2
    C,--112227610(+) TTGAAC/TGTTTC 2 -- int10--------
    rs1912400321,2
    C,--112227737(+) CATTCC/TGGTGA 4 P L mis10--------
    rs1998479501,2
    --112227739(+) TTCCGG/TTGAGT 2 -- spd10--------
    rs1501073491,2
    --112227965(+) GAAAAA/GTGGAA 2 -- int10--------
    rs1383921781,2
    --112228102(+) ACGATA/GGATGG 2 -- int10--------
    rs1492415621,2
    C,--112228232(+) GTTTGC/TTGCAG 2 -- int10--------
    rs582800591,2
    C,F--112228249(+) TTCCCG/ACTCCT 4 /P syn14Minor allele frequency- A:0.00NS NA EU 6311
    rs1446417981,2
    C,--112228333(+) CCCCTC/GACCGC 4 L syn11Minor allele frequency- G:0.00NA 4550
    rs1382016311,2
    C,F,--112228336(+) CTCACC/TGCCCT 4 T syn11Minor allele frequency- T:0.00NA 4548
    rs1820215951,2
    --112228466(+) GAGGTA/GTGTTT 2 -- int10--------
    rs1153417291,2
    --112228573(+) ATTGCT/CCTAGG 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1436716431,2
    --112228596(+) GCTCAC/TGCCTG 2 -- int10--------
    rs4401,2
    C,F,H,--112228714(+) TCAGCT/CGGGTG 2 -- int124Minor allele frequency- C:0.22CSA MN NS EA NA WA 1658
    rs1870617171,2
    --112228844(+) AGAGAC/TTCGGT 2 -- int10--------
    rs4411,2
    C,F,A,H,--112228849(+) CTCGGT/CCTCAA 2 -- int128Minor allele frequency- C:0.18CSA EA MN EU NS NA WA 4392
    rs1471953981,2
    --112228864(+) CAAACA/GAAAAC 2 -- int10--------
    rs1923868241,2
    --112228898(+) TGTCAC/GGGGAG 2 -- int10--------
    rs1404592221,2
    --112228928(+) CCCAGC/TGAACA 2 -- int10--------
    rs745952291,2
    C,F,--112229081(+) TGACTC/TCCAAT 2 -- int13Minor allele frequency- T:0.09WA CSA 122
    rs1398626321,2
    F--112229160(+) CCCACG/AGCTGG 4 /T syn11Minor allele frequency- A:0.00NA 4506
    rs1428815991,2
    --112229478(+) AGCCCA/GGAGCT 2 -- int10--------
    rs1840111591,2
    --112229785(+) TGGGGA/GACTCT 2 -- int10--------
    rs2018353061,2
    --112229871(+) TTGGCC/TGCGTA 4 R C mis10--------
    rs1506319411,2
    C,F,--112229919(+) TGACCT/CTGGAG 4 /L syn11Minor allele frequency- C:0.00NA 4548
    rs1450778561,2
    F--112229928(+) AGCTGG/TGGGGG 4 G W mis11Minor allele frequency- T:0.00NA 4552
    rs1422716781,2
    C,F,--112229964(+) ATGCCG/AATAGT 4 /N /D mis11Minor allele frequency- A:0.00NA 4552