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

TAP2 Gene

protein-coding   GIFtS: 63
GCID: GC06M032789

Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)


(Previous symbol: ABCB3)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)1 2     ABC182
ABCB31 2 3 5     D6S217E2
PSF22 3 5     ABC Transporter, MHC 22
RING112 3 5     Antigen Peptide Transporter 22
Peptide Supply Factor 22 3     ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 32
Peptide Transporter Involved In Antigen Processing 22 3     Transporter 2, ABC (ATP Binding Cassette)2
Peptide Transporter PSF22 3     Y13
Really Interesting New Gene 11 Protein2 3     ATP-Binding Cassette Sub-Family B Member 33
APT22 3     Peptide Transporter TAP23
PSF-22 3     

External Ids:    HGNC: 441   Entrez Gene: 68912   Ensembl: ENSG000002042677   OMIM: 1702615   UniProtKB: Q035193   

Export aliases for TAP2 gene to outside databases

Previous GC identifers: GC06M032786 GC06M032560 GC06M032837 GC06M032838 GC06M032897 GC06M032783 GC06M032531


(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 TAP2 Gene:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are
divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member
of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is
located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen
presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to
the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis,
insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces two products
which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules.
(provided by RefSeq, Jul 2008)

GeneCards Summary for TAP2 Gene: 
TAP2 (transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)) is a protein-coding gene. Diseases associated with TAP2 include mhc class i deficiency, and bare lymphocyte syndrome, type i, due to tap2 deficiency, and among its related super-pathways are ER-Phagosome pathway and Immune System. GO annotations related to this gene include transporter activity and MHC class I protein binding. An important paralog of this gene is ENSG00000250264.

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association
with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely
the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent
attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by
human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and
acts as a tapasin inhibitor, preventing MHC class I/TAP association

Gene Wiki entry for TAP2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TAP2 gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAP2


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

TAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAP2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032789:  view genomic region     (about GC identifiers)

Start:
32,789,610 bp from pter      End:
32,806,557 bp from pter
Size:
16,948 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,NT_167246 4,246,806-4,263,744      Chr6-,NT_167245 4,071,136-4,087,923      Chr6-,NT_113891.2 4,234,140-4,251,075     
Chr6-,NT_167247 4,126,506-4,143,422      Chr6-,NT_167249 4,220,533-4,237,318      Chr6-,NT_167248 4,021,717-4,038,655     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519 (See protein sequence)
Recommended Name: Antigen peptide transporter 2  
Size: 686 amino acids; 75664 Da
Subunit: Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments
seem to form a pore in the membrane
Secondary accessions: B0V2J8 O95410 Q53FI6 Q5HY71 Q96PT8 Q9UQ83
Alternative splicing: 2 isoforms:  Q03519-1   Q03519-2   

Explore the universe of human proteins at neXtProt for TAP2: NX_Q03519

Explore proteomics data for TAP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q03519

  • TAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TAP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000535.3  NP_061313.2  

    ENSEMBL proteins: 
     ENSP00000364034   ENSP00000364032  
    Reactome Protein details: Q03519
    Human Recombinant Protein Products for TAP2: 
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    Novus Biologicals TAP2 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TAP2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005743NOT mitochondrial inner membrane IRD--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane IBA--

    TAP2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB3 
    ABCB subfamily

    5/9 InterPro protein domains (see all 9):
     IPR013306 ABC_B3
     IPR003439 ABC_transporter-like
     IPR005293 Ag_transporter2
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom

    Graphical View of Domain Structure for InterPro Entry Q03519

    ProtoNet protein and cluster: Q03519

    UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
    Domain: The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    TAP2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TAP2_HUMAN, Q03519
    Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association
    with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely
    the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent
    attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by
    human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
    translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
    induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and
    acts as a tapasin inhibitor, preventing MHC class I/TAP association
    Induction: By IFNG/IFN-gamma

         Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity IDA10835348
    GO:0005515protein binding IPI12213826
    GO:0005524ATP binding IDA7673167
    GO:0015197contributes to peptide transporter activity IGI7673167
         
    TAP2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TAP2:
     Increased Salmonella enterica   Synthetic lethal with Ras  Synthetic lethal with paclitax 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tap2):
     hematopoietic system  immune system 

    TAP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TAP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TAP2 

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TAP2 (see all 14):
    hsa-miR-3685 hsa-miR-148b* hsa-miR-136 hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-1321 hsa-miR-589* hsa-miR-888
    SwitchGear 3'UTR luciferase reporter plasmidTAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAP2 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.81
    Antigen processing-Cross presentation0.81
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Immune response Antigen presentation by MHC class I
    Immune response Antigen presentation by MHC class I0.92
    4Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83
    5ABC-family proteins mediated transport
    ABC transporters0.70

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TAP2
        Immune response Antigen presentation by MHC class I


    1 Cell Signaling Technology (CST) Pathway for TAP2
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for TAP2
        Immune response Antigen presentation by MHC class I

    5/6        Reactome Pathways for TAP2 (see all 6)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Antigen processing-Cross presentation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    ER-Phagosome pathway


    5         Kegg Pathways  (Kegg details for TAP2):
        ABC transporters
    Phagosome
    Antigen processing and presentation
    Herpes simplex infection
    Primary immunodeficiency


    TAP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/44 Interacting proteins for TAP2 (Q035191, 2, 3 ENSP000003640344) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227816Q035181, 2, 3, ENSP000004011494EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000401149
    ENSG00000232367Q035181, 2, 3, ENSP000004023164EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000402316
    TAP1Q035181, 2, 3, ENSP000003462064EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000346206
    ENSG00000206297Q035181, 2, 3EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 
    ENSG00000224212Q035181, 2, 3EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IBA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0002481antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA--
    GO:0002485antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA--

    TAP2 for ontologies           About GeneDecksing



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

    TAP2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TAP2

    1 HMDB Compound for TAP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    10/12 Novoseek inferred chemical compound relationships for TAP2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isoleucine 15.1 2 15774487 (1), 9098429 (1)
    oligonucleotide 13.9 3 11775239 (1), 9027960 (1), 9645419 (1)
    atp 11.4 9 8428770 (1), 12217520 (1), 15897556 (1), 15900495 (1) (see all 5)
    alanine 10.4 8 7957231 (2), 10626334 (1), 8477801 (1), 9098429 (1) (see all 5)
    forskolin 5.98 5 8961279 (2), 1333053 (1), 11410589 (1)
    mitoxantrone 5.44 2 11513878 (2)
    calcium 0 2 1317848 (1), 15337366 (1)
    threonine 0 4 10626334 (1), 8477801 (1), 19721454 (1)
    cyclic amp 0 1 9802424 (1)
    acth 0 3 8961279 (1)

    Search CenterWatch for drugs/clinical trials and news about TAP2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TAP2 gene (2 alternative transcripts): 
    NM_000544.3  NM_018833.2  

    Unigene Cluster for TAP2:

    Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
    Hs.502  [show with all ESTs]
    Unigene Representative Sequence: NM_000544
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374899(uc003ocb.1) ENST00000374897(uc003occ.3 uc003ocd.3)
    ENST00000464100 ENST00000485701
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AB073779.1 AB208953.1 AF078671.1 AF105151.1 AF152583.1 AF176984.1 AK222823.1 AK223300.1 
    AK225657.1 AK225693.1 AK292963.1 AL833658.1 BC002751.2 BT009906.1 FM246456.1 L09191.1 
    L09271.1 L10287.1 M74447.1 M84748.1 U07844.1 Z22935.1 Z22936.1 

    9 DOTS entries:

    DT.91945568  DT.100754817  DT.310617  DT.100754819  DT.95220491  DT.97799200  DT.91686680  DT.95220496 
    DT.100754818 

    24/221 AceView cDNA sequences (see all 221):

    BC002751 AU105993 M84748 CA430500 BU174105 CB267339 BX283204 BM714492 
    F01995 AW152445 AL833658 AA742183 BM564383 AW016114 CA488029 AI638705 
    BU541101 BE675375 BQ689199 BE260238 BE746187 AF078671 BT009906 AA302365 

    GeneLoc Exon Structure


    (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

    TAP2 expression in normal human tissues (normalized intensities)      TAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGTATAC
    TAP2 Expression
    About this image


    TAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             neutrophils   
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    See TAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TAP2

    SOURCE GeneReport for Unigene cluster: Hs.502
        SABiosciences Expression via Pathway-Focused PCR Arrays including TAP2: 
              Antigen Presenting Cells in human mouse rat
              Drug Transporters in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TAP2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TAP2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TAP2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TAP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP2

    (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 common ancestor of eukaryotes.

    Orthologs for TAP2 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tap21 , 5 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)1, 5 79.57(n)1
    76.86(a)1
      17 (17.98 cM)5
    213551  NM_011530.31  NP_035660.31 
     342035275 
    chicken
    (Gallus gallus)
    Aves TAP21 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 59.57(n)
    51.17(a)
      427728  NM_001099357.1  NP_001092827.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    50(a)
    1 → many
    GL344036.1(46053-70159)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY204554.12   -- 70.69(n)    AY204554.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcb3l11 ATP-binding cassette, sub-family B (MDR/TAP), member more 54.72(n)
    49.83(a)
      368771  NM_001006594.1  NP_001006594.1 
    worm
    (Caenorhabditis elegans)
    Secernentea haf-86
    haf-46
    (see all 5)
    Protein HAF-4
    (see all 5)
    26(a)
    26(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(14694032-14699940)
    I(489984-496154)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDL26
    MDL16
    Mitochondrial inner membrane half-type ATP-binding...
    Mitochondrial inner membrane half-type ATP-binding...
    22(a)
    22(a)
    many ↔ many
    many ↔ many
    XVI(30482-32803)
    XII(528300-530387)
    barley
    (Hordeum vulgare)
    Liliopsida Hv.72712 Transcribed sequence with moderate similarity to protein more 73.38(n)    AJ474430.1 


    ENSEMBL Gene Tree for TAP2 (if available)
    TreeFam Gene Tree for TAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TAP2 gene
    ENSG000002502642  ABCB102  ABCB82  ABCB92  TAP12  
    15 SIMAP similar genes for TAP2 using alignment to 9 protein entries:     TAP2_HUMAN (see all proteins):
    ABCB3    TAP2-G    ABCB4    NG-TRA    ABCB9    TAP1
    ABCB1    MDR1    ABCB11    ABCB8    DKFZp434I2115    ABCB5
    ABCB10    ABCB6    ABCC10

    TAP2 for paralogs           About GeneDecksing



    (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) 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: TAP2_HUMAN, Q03519
    Polymorphism: 4 common alleles are officially recognized: TAP2*01:01 (TAP2A or PSF2A or RING11A), TAP2*01:02
    (TAP2E), TAP2*01:03 (TAP2F), and TAP2*02:01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have
    been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02:02), TAP2*02D,
    TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01:01
    Polymorphism: The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with
    susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva,
    cornea and mouth due to exocrine glands dysfunction


    583 SNPs in TAP2 are shown (see top 10)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004541,2,4
    C,F,Hnon-pathogenic132800412(-) TGCTCG/ATAAGG 12 /I /V mis150Minor allele frequency- A:0.14MN NA NS EA WA CSA EU 12308
    rs2414481,2
    C,F,A,Huntested132796685(-) AGCTCT/CAGGAG 9 /Q /* stg1 int124Minor allele frequency- C:0.31MN NS EA NA WA 2770
    rs2414471,2,4
    C,F,A,Huntested132796751(-) TGCAGA/GCAGTT 9 T A mis1 int1 ese326Minor allele frequency- G:0.31MN EA NS NA WA CSA 4278
    VAR_0149994
    ----see VAR_0149992 A S mis40--------
    rs623976851,2
    C,F--32789111(+) CAGAGA/GCACTG 3 -- ds50012Minor allele frequency- G:0.04WA NA 238
    rs598532181,2
    C,F--32789168(+) TCTCCT/CGTATT 3 -- ds50017Minor allele frequency- C:0.13WA CSA NA EA 366
    rs607724341,2
    C,F--32789197(+) TTGAAA/C/TGAGCC 3 -- ds50016WA CSA NA EA 364
    rs600662201,2
    C,F--32789280(+) ACAGGC/ATCCTC 3 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs132109611,2
    C,F,H--32789388(+) TTTGAG/AGGTGG 3 -- ds50019Minor allele frequency- A:0.02NS EA NA 660
    rs1510272681,2
    C--32789400(+) ATAAAA/GTTATT 3 -- ds50010--------
    rs26213211,2
    C,F,A,H--32789480(-) TGAGAT/CGTACG 3 -- ds500124Minor allele frequency- C:0.26NS EA NA WA 2932
    rs1409273171,2
    C--32789511(+) TTCCTC/TCTAAC 1 -- ds50010--------
    rs734107731,2
    C,F--32789702(+) TTGACG/ATCTCA 3 -- ut317Minor allele frequency- A:0.14WA CSA NA EA 366
    rs734107741,2
    C,F--32789739(+) GAAGGC/G/TGCTGG 6 -- ut316WA CSA NA EA 364
    rs734107751,2
    C,F--32789742(+) GGGGCT/CGGGGA 3 -- ut316Minor allele frequency- C:0.13WA CSA NA EA 364
    rs117519811,2
    C,H--32789760(+) AAGGAT/CGTAAG 3 -- ut31 ese34Minor allele frequency- C:0.00NS EA 418
    rs168709071,2
    C,F,H--32789807(+) GCAAAC/TTCATG 3 -- ut3122Minor allele frequency- T:0.12NA NS EA WA CSA 2300
    rs1175032391,2
    C,F--32789847(+) CTGAGG/TAACCA 3 -- ut311Minor allele frequency- T:0.02EA 120
    rs1824899821,2
    --32789873(+) AATCTA/GCAGCC 1 -- ut310--------
    rs734107761,2
    C,F--32789955(+) TTTCCC/TTGTGA 3 -- ut317Minor allele frequency- T:0.14WA CSA NA EA 366
    rs28571051,2
    C,F,H--32790059(-) TTTCAA/GTGGAT 3 -- ut31 ese323Minor allele frequency- G:0.03NS EA NA WA EU 3531
    rs168709081,2
    C,F,H--32790089(+) CCAAAG/AGGTTT 6 /L /F mis135Minor allele frequency- A:0.11NA NS EA MN WA CSA EU 7397
    rs1422462551,2
    C--32790099(+) TCTAG-/AAAAAA 1 -- int10--------
    rs610210121,2
    C--32790109(+) AAAAA-/ACAAAA 3 -- int10--------
    rs28571041,2
    C,F,A,H--32790167(-) ACATTG/CCAAAC 3 -- int17Minor allele frequency- C:0.25NS NA CSA WA EA 472
    rs1863200101,2
    --32790237(+) TGCATC/TGTCAT 1 -- int10--------
    rs734107791,2
    C--32790273(+) TTCATA/TAAAAA 3 -- int15Minor allele frequency- T:0.14WA NA EA 362
    rs1385054241,2
    C--32790310(+) TAATT-/TTT   
       GTTTG
    TTTGT
    1 -- int10--------
    rs1120983101,2
    C--32790404(+) TTGAACTC/-CTGGG 3 -- cds11Minor allele frequency- -:0.50CSA 2
    rs1912265591,2
    --32790407(+) GAACTC/GGGCCC 1 -- int10--------
    rs734107801,2
    C,F--32790438(+) CCAAGT/CAGTTG 3 -- int17Minor allele frequency- C:0.14WA CSA NA EA 366
    rs734107811,2
    C,F--32790468(+) CCACAA/C/TCTGGC 3 -- int16WA CSA NA EA 248
    rs734107821,2
    C,F--32790498(+) AGAGAC/TGGGTT 3 -- int16Minor allele frequency- T:0.13WA CSA NA EA 364
    rs1501996841,2
    C--32790499(+) GAGACA/GGGTTT 1 -- int10--------
    rs734107831,2
    C,F--32790630(+) AAGTTT/CGATAT 3 -- int17Minor allele frequency- C:0.13WA CSA NA EA 366
    rs1393453371,2
    C--32790641(+) AGATGC/TAGCAT 3 -- int10--------
    rs1115941821,2
    C--32790718(+) TTGAGA/GCAGAG 3 -- int11Minor allele frequency- G:0.00WA 2
    rs1835403621,2
    C--32790736(+) GTGCCA/GCCCAG 1 -- int10--------
    rs1127071551,2
    --32790799(+) TCAAGC/TAATTC 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1130257461,2
    --32790800(+) CAAGCG/AATTCT 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1884659551,2
    --32790916(+) GCCCTC/TGAAAT 1 -- int10--------
    rs26213201,2
    C,A,H--32790940(-) GCGGGC/TGGATC 3 -- int11Minor allele frequency- T:0.50NA 2
    rs576543601,2
    C,F--32790982(+) ATGAAT/CCACCA 3 -- int16Minor allele frequency- C:0.13WA CSA NA EA 364
    rs1484382741,2
    C--32791025(+) TCTAGC/TCCAGG 3 -- int10--------
    rs1922161741,2
    --32791030(+) TCCAGA/GGAAAG 3 -- int10--------
    rs1832028131,2
    --32791059(+) TGGTAA/GTACAT 1 -- int10--------
    rs580272041,2
    C,F--32791139(+) TTAAAC/TACATG 3 -- int17Minor allele frequency- T:0.13WA CSA NA EA 365
    rs673914581,2
    C--32791179(+) TACAT-/TATAAAG 3 -- int10--------
    rs616111701,2
    C--32791181(+) CATTA-/TAAAGTG 3 -- int10--------
    rs561052631,2
    C,F--32791291(+) CCCTTT/CTGTTT 3 -- int13Minor allele frequency- C:0.21WA CSA 122
    rs28571031,2
    C,F,A,H--32791299(-) GAGAAG/TGCAAA 3 -- int127Minor allele frequency- T:0.40NS EA NA WA CSA 2942
    rs574704831,2
    C,F--32791313(+) TTATGT/CCTTTG 3 -- int13Minor allele frequency- C:0.21WA CSA 122
    rs584152331,2
    C,F--32791371(+) CTTTAT/GGTTAG 3 -- int13Minor allele frequency- G:0.22WA CSA 122
    rs1152251851,2
    C,F--32791391(+) GCATAT/CTGCAA 1 -- int11Minor allele frequency- C:0.09WA 118
    rs28569931,2
    C,F,A,H--32791403(-) AAACTC/GTATTA 3 -- int118Minor allele frequency- G:0.26NS EA NA WA 1784
    rs1879396011,2
    --32791443(+) ATTTAA/TTTAGT 1 -- int10--------
    rs1445645401,2
    C--32791543(+) ATGAG-/TATT  
            
    TATTT
    3 -- int10--------
    rs592503381,2
    C--32791548(+) TATTT-/A/ATTT
            
    TTAAA
    3 -- int10--------
    rs1468872641,2
    C--32791564(+) TTCAC-/TATGTCT 3 -- int10--------
    rs168709111,2
    C,F,H--32791588(+) TTAAAA/TATTTT 3 -- int19Minor allele frequency- T:0.06NA NS EA WA 664
    rs1416194561,2
    --32791597(+) TTACCC/TTTTCA 1 -- int10--------
    rs601559301,2
    C,F--32791663(+) ATACAC/ATTAGT 3 -- int14Minor allele frequency- A:0.12WA CSA NA 242
    rs1512687221,2
    C--32791751(+) CTTTC-/TTTGTG
            
    TGTGT
    1 -- cds10--------
    rs614736461,2
    C--32791752(+) TTTCT-/TTGTG 
    T
    /TTTGTG
    GTGTG
    6 -- cds10--------
    rs168709141,2
    C,F,H--32791774(+) TTGTAG/CTCTTA 3 -- int110Minor allele frequency- C:0.06NA NS EA WA 668
    rs1910947441,2
    --32791792(+) AAATAC/TGAGCA 1 -- int10--------
    rs2015767281,2
    --32791807(+) ATTTA-/TTAGTT
            
    TTAAA
    2 -- int10--------
    rs1459543561,2
    --32791818(+) TTAAAG/TAATAT 1 -- int10--------
    rs591455011,2
    C,F--32791831(+) TTTGAT/CTCCTA 3 -- int14Minor allele frequency- C:0.12WA CSA NA 242
    rs1145777741,2
    C,F--32791848(+) ACAGAC/AAAGAA 1 -- int12Minor allele frequency- A:0.05WA NA 238
    rs580755771,2
    C,F--32791929(+) AATTTC/GTCAAT 3 -- int14Minor allele frequency- G:0.12WA CSA NA 241
    rs562790001,2
    C,F--32791938(+) ATTAAT/CTTCTT 3 -- int14Minor allele frequency- C:0.12WA CSA NA 242
    rs168709171,2
    C,F,H--32792092(+) CTATAT/CGTTTA 3 -- int111Minor allele frequency- C:0.06NA NS EA WA CSA 672
    rs168709181,2
    C,F,H--32792162(+) TCTTAT/GATCTG 3 -- int110Minor allele frequency- G:0.06NA NS EA WA CSA 670
    rs1123388751,2
    C--32792277(+) ACTCCCA/-TATTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs168709191,2
    C,F,H--32792283(+) ATATTT/CAAGCT 3 -- int110Minor allele frequency- C:0.07NA NS EA WA CSA 670
    rs1169040361,2
    C,F--32792318(+) ATTTAC/TATTCG 3 -- int11Minor allele frequency- T:0.05EA 120
    rs1843836471,2
    --32792323(+) CATTCA/GTTTCT 1 -- int10--------
    rs1897011341,2
    --32792340(+) ATATAG/TGGTGC 1 -- int10--------
    rs734107851,2
    C--32792533(+) ATCTGA/CAGGTA 3 -- int15Minor allele frequency- C:0.06WA CSA NA EA 362
    rs1402190061,2
    C--32792585(+) AGGTG-/CTTTAA
            
    CTTTG
    3 -- int10--------
    rs781840011,2
    C,F--32792616(+) TGTCAC/TTTGTG 3 -- int13Minor allele frequency- T:0.11WA NA 240
    rs168709211,2
    C,F,H--32792640(+) ATTTTT/GAAATT 3 -- int18Minor allele frequency- G:0.04NA NS EA WA 662
    rs132096541,2
    C,F,H--32792659(+) ATTTTT/CATTAC 3 -- int113Minor allele frequency- C:0.05NS EA NA 1892
    rs1927452841,2
    --32792691(+) TATTTC/TATTTC 2 -- ds5001 int10--------
    rs168709231,2
    C,F,H--32792693(+) TTTCAT/CTTCTC 6 -- ds5001 int116Minor allele frequency- C:0.10NA NS EA WA CSA 1838
    rs1417038121,2
    C--32792731(+) ATTTG-/TTATTGTT 6 -- ds5001 int10--------
    rs413165441,2
    C,F--32792886(+) AAAAAT/ATAACA 6 -- ds5001 int11Minor allele frequency- A:0.04NA 120
    rs1387775941,2
    C--32792905(+) TGGTT-/ATATAC
            
    ATATA
    6 -- ds5001 int10--------
    rs95012241,2
    C,F,A--32792910(+) ATATAT/CATATA 6 -- ds5001 int14Minor allele frequency- C:0.38NA CSA 8
    rs18944111,2
    C,F,A,H--32792973(-) AGGCTA/GTATTA 6 -- ds5001 int121Minor allele frequency- G:0.19NS EA NA WA 2936
    rs1890012211,2
    --32793043(+) ACTCCC/TCTTTA 2 -- ds5001 int10--------
    rs2015195051,2
    C--32793117(-) CTTTTG/TCTGTT 6 -- ds5001 int10--------
    rs2009322661,2
    --32793252(+) AACTT-/AGAC  
            
    AGCTG
    6 -- ut31 int10--------
    rs734107871,2
    C,F--32793255(+) TTAGAC/GAGCTG 6 -- ut31 int16Minor allele frequency- G:0.13WA CSA NA EA 364
    rs1817358971,2
    --32793339(+) ATAAAC/GACAAA 2 -- ut31 int10--------
    rs737389101,2
    C,F--32793353(+) GGAAGA/CACGGA 6 -- ut31 int14Minor allele frequency- C:0.12WA CSA NA 242
    rs1864388951,2
    C--32793355(+) AAGAAC/TGGATT 2 -- ut31 int10--------
    rs1894864471,2
    --32793383(+) TAGCAA/GACCTT 2 -- ut31 int10--------
    rs737389121,2
    C,F--32793394(+) GAGAAG/CGATTG 6 -- ut31 int13Minor allele frequency- C:0.22WA CSA 122
    rs737389141,2
    C,F--32793423(+) GTATAC/TTTCTT 6 -- ut31 int13Minor allele frequency- T:0.22WA CSA 122
    rs737389161,2
    C,F--32793456(+) ACATTC/AATATA 6 -- ut31 int12Minor allele frequency- A:0.21WA 120
    rs1446034271,2
    C--32793489(+) ATATA-/TTTTTA 2 -- ut31 int10--------
    rs135011,2
    C,F,A,H--32793523(+) GTGGAG/ATCAGG 6 -- ut31 int127Minor allele frequency- A:0.40MN NS EA NA WA CSA 3108
    rs1807207901,2
    --32793528(+) GTCAGC/GGAGTA 2 -- ut31 int10--------
    rs771522591,2
    C--32793534(+) GAGTAT/CAGGCA 6 -- ut31 int13Minor allele frequency- C:0.06WA NA EA 242
    rs737389191,2
    C--32793546(+) CTCTTT/CTGAGG 6 -- ut31 int12Minor allele frequency- C:0.21WA 120
    rs737389211,2
    C,F--32793641(+) TCTCAC/GTCTTA 6 -- ut31 int13Minor allele frequency- G:0.22WA CSA 122
    rs1152613051,2
    C,F--32793668(+) ACCTGC/ACACAT 6 -- ut31 int11Minor allele frequency- A:0.03WA 118
    rs95012251,2
    C,H--32793672(+) gccacA/Gtagaa 6 -- ut31 int1 ese35Minor allele frequency- G:0.00NS EA NA 418
    rs737389231,2
    C,F--32793706(+) AGACAG/TGTTTC 6 -- ut31 int14Minor allele frequency- T:0.12WA CSA NA 242
    rs734107891,2
    C--32793721(+) ACTTGG/CCACAG 6 -- ut31 int13Minor allele frequency- C:0.06WA NA EA 242
    rs1860213411,2
    C--32793728(+) ACAGCA/CATAGC 2 -- ut31 int10--------
    rs2020589681,2
    --32793758(+) ATGCT-/TAGTAGTA 6 -- cds1 int10--------
    rs28571021,2
    C,O--32793770(-) AGACTA/CCTACT 6 -- ut31 int1 ese32Minor allele frequency- C:0.25NA 4
    rs1447021111,2
    C--32793772(+) TAGTA-/GTCTAATT 6 -- cds1 int10--------
    rs2013376731,2
    C--32793774(-) AATTAG/TACTAC 6 -- ut31 int10--------
    rs1828978801,2
    --32793784(+) TCCTAA/GGAGTC 2 -- ut31 int10--------
    rs69051221,2
    C,A,H--32793957(+) CTGCTT/CGTTTC 6 -- ut31 int16Minor allele frequency- C:0.05NS EA WA NA 532
    rs69255201,2
    C,F--32793958(+) TGCTTG/ATTTCA 6 -- ut31 int13Minor allele frequency- A:0.12WA NA 240
    rs69253361,2
    C,F,H--32793970(+) AATTGC/TCATGT 6 -- ut31 int1 ese35Minor allele frequency- T:0.06NS EA WA NA 536
    rs10440431,2
    C,F,A,H--32793981(-) ACTTGG/TAATCC 6 -- ut31 int130Minor allele frequency- T:0.21EA NS MN NA WA CSA 4397
    rs69055031,2
    C,F,H--32794119(+) TCCATT/GCATAC 6 -- ut31 int1 ese313Minor allele frequency- G:0.06NS EA WA CSA NA 1246
    rs1434961751,2
    C--32794181(+) AGCGAA/CAAGAA 6 -- ut31 int10--------
    rs113304271,2
    C--32794226(+) GTGAT-/GGGGGG 6 -- ut31 int10--------
    rs1174135121,2
    C,F--32794419(+) GACATC/TTTAAG 6 -- ut31 int11Minor allele frequency- T:0.04EA 120
    rs1856096301,2
    --32794457(+) TCAAGA/GTAAGT 2 -- ut31 int10--------
    rs737389241,2
    C,F--32794586(+) TGGGTA/GTAACT 6 -- ut31 int13Minor allele frequency- G:0.13WA CSA 122
    rs28571011,2
    C,F,A,H--32794676(-) GAATAA/GTAATT 6 -- ut31 int1 ese323Minor allele frequency- G:0.28NS EA NA WA 2940
    rs737389251,2
    C,F--32794774(+) AATTTG/AAGAGA 6 -- ut31 int13Minor allele frequency- A:0.11WA CSA 122
    rs1467167761,2
    --32794786(+) GGATGC/GGTGTG 2 -- ut31 int10--------
    rs172137631,2
    C,F--32794799(+) GCTGCA/CAGTCA 6 -- ut31 int1 ese32Minor allele frequency- C:0.04MN WA 212
    rs172137701,2
    C,F--32794830(+) CAAATC/GTGCAC 6 -- ut31 int1 ese34Minor allele frequency- G:0.08MN WA CSA 214
    rs1391544531,2
    --32794835(+) CTGCAC/TAAGAA 2 -- ut31 int10--------
    rs28571001,2
    C,F,H--32794856(-) GATGGG/AGTGAG 6 -- ut31 int15Minor allele frequency- A:0.00MN NS EA 510
    rs172201711,2
    C,F--32794907(+) AATCCA/GAAACA 6 -- ut31 int14Minor allele frequency- G:0.08MN WA CSA 218
    rs172201781,2
    C,F--32794947(+) GGAAAC/GTACCT 6 -- ut31 int1 ese32Minor allele frequency- G:0.07MN WA 214
    rs172201851,2
    C,F--32794962(+) TTTCCA/GGGAAT 6 -- ut31 int1 ese34Minor allele frequency- G:0.08MN WA CSA 218
    rs172137771,2
    C,F--32794969(+) GAATAT/CGAAGG 6 -- ut31 int1 ese33Minor allele frequency- C:0.07MN CSA WA 216
    rs104845651,2
    C,F,H--32795032(+) GTGATG/ATGTAC 6 -- ut31 int1 ese340Minor allele frequency- A:0.07NS MN NA EA WA CSA 4108
    rs737389291,2
    C,F--32795054(+) TTCAGT/CGGTGG 6 -- ut31 int13Minor allele frequency- C:0.06WA CSA 122
    rs1499394741,2
    --32795063(+) GGGAGC/TGGGCA 2 -- ut31 int10--------
    rs172137911,2
    C,F--32795087(+) TTAGTA/TCGATG 6 -- ut31 int12Minor allele frequency- T:0.05MN WA 212
    rs737389301,2
    C,F--32795094(+) GATGGT/CGGAGA 6 -- ut31 int13Minor allele frequency- C:0.05WA CSA 122
    rs1828949961,2
    C--32795120(+) TCAATG/TGACTA 6 -- ut31 int10--------
    rs1407346291,2
    C--32795123(+) TTGAC-/TTTT  
            
    TATTT
    6 -- ut31 int10--------
    rs172137981,2
    C,F--32795235(+) AAAAGG/TTGGGA 6 -- ut31 int1 ese32Minor allele frequency- T:0.04MN EA 214
    rs1452343851,2
    --32795282(+) GTAACC/TGCACA 2 -- ut31 int10--------
    rs737389321,2
    C,F--32795418(+) AAACAC/TCATAT 6 -- ut31 int13Minor allele frequency- T:0.06WA CSA 122
    rs1491772981,2
    C--32795421(+) CACCAC/TATGCA 2 -- ut31 int10--------
    rs1875625101,2
    --32795462(+) TTTGTC/TGTGGA 2 -- ut31 int10--------
    rs1925589271,2
    C--32795636(+) AGAGGA/GAAGCT 2 -- ut31 int10--------
    rs557817561,2
    C,F--32795706(+) ACAACG/AGGACT 6 -- ut31 int12Minor allele frequency- A:0.07NA EA 240
    rs737389361,2
    C,F--32795732(+) GATTCT/AGAATT 6 -- ut31 int13Minor allele frequency- A:0.06WA CSA 122
    rs1826914601,2
    --32795878(+) ACTACA/GACCAC 2 -- ut31 int10--------
    rs1875235321,2
    --32795935(+) TAAAAC/TGGGGA 2 -- ut31 int10--------
    rs2414561,2
    C,F,A,H--32795965(-) TTATCC/TCCAAC 6 -- ut31 int1 ese320Minor allele frequency- T:0.29MN NS EA NA WA CSA 2508
    rs557387621,2
    C--32795981(+) AAAAAC/TGATAA 6 -- ut31 int10--------
    rs737389371,2
    C--32796013(+) AGCTCC/TTACTC 6 -- ut31 int12Minor allele frequency- T:0.05WA 120
    rs2414551,2
    C,F,A,H--32796019(-) TAATGG/TGAGTA 6 -- ut31 int1 ese320Minor allele frequency- T:0.32EA NS NA WA CSA 3808
    rs20715461,2
    C,F,A,H--32796057(-) AATAGC/TGACAT 6 -- ut31 int17Minor allele frequency- T:0.17NS WA NA EA 592
    rs20715451,2
    C,F,A,H--32796058(-) TAATAG/ACGACA 6 -- ut31 int1 ese37Minor allele frequency- A:0.17NS WA NA EA 588
    rs2414541,2
    C,F,A,H--32796144(-) TATCCT/CTCCTT 6 -- ut31 int126Minor allele frequency- C:0.32EA MN NS NA WA CSA 4034
    rs1927777191,2
    --32796195(+) AATTTA/CTATCT 2 -- ut31 int10--------
    rs2414531,2
    C,F,H--32796226(-) CCTGTC/TCCATC 6 -- ut31 int127Minor allele frequency- T:0.28MN NS EA NA WA 3308
    rs1153608101,2
    C,F--32796310(+) TTTATA/GTTGTC 6 -- ut31 int11Minor allele frequency- G:0.05NA 120
    rs1478787741,2
    C--32796312(+) TATATC/TGTCTA 6 -- ut31 int10--------
    rs2414521,2
    C,F,H--32796346(-) CTTACA/GTGAAC 6 -- ut31 int1 ese319Minor allele frequency- G:0.30MN NS EA NA WA 2512
    rs1418097641,2
    --32796451(+) CAGACA/CGCCCC 2 -- ut31 int10--------
    rs1129274561,2
    C--32796455(+) CAGCCC/TCCACC 6 -- ut31 int13Minor allele frequency- T:0.21CSA WA NA 240
    rs1142476731,2
    F--32796466(+) CCACCC/ACACCC 6 -- ut31 int12Minor allele frequency- A:0.15WA NA 238
    rs2414511,2
    C,F,A,H--32796480(-) GGGGTA/GGAGAG 6 -- ut31 int1 ese320Minor allele frequency- G:0.39MN NS EA NA WA CSA 2526
    rs758176041,2
    C--32796510(+) CAAATC/TTCCAT 6 -- ut31 int10--------
    rs170341,2
    C,F,A,H--32796521(-) TTGCAG/AGCACG 6 -- ut31 int1 ese328Minor allele frequency- A:0.29MN EA NS NA WA CSA 3000
    rs2414491,2
    C,F,A,H--32796653(-) CTGGTG/TCAGCA 3 -- int1 ese323Minor allele frequency- T:0.31MN NS EA NA WA 2752
    rs1846987111,2
    C--32796693(+) GCTGGA/GCAAGC 3 A V mis1 int10--------
    rs1119126221,2
    C--32796750(+) GAACTA/GTCTGC 9 A V mis1 int11Minor allele frequency- G:0.00CSA 1
    rs41488761,2,4
    C,F,H--32796793(-) ATTCCC/TGTGGG 9 R C mis1 int134Minor allele frequency- T:0.08NS EA MN WA NA EU 5327
    rs2011943541,2
    --32796857(+) GATGG-/ACACCAC 6 -- int10--------
    rs41488751,2
    C--32796858(-) ATGTG-/GTGTCCAT 6 -- int10--------
    rs1888732981,2
    --32796899(+) GGGTAA/GAGAAG 2 -- int10--------
    rs1919757101,2
    --32796960(+) CCCTTC/TTCTCC 2 -- int10--------
    rs2414461,2
    C,F,A,H--32796967(-) ACAGCC/TGGGAG 6 -- int121Minor allele frequency- T:0.31MN EA NS NA WA 3996
    rs1845792731,2
    --32796982(+) CCACAC/GCTGGA 2 -- int10--------
    rs1169815921,2
    C,F--32796992(+) AGGAAT/CGGAAG 6 -- int11Minor allele frequency- C:0.07EA 120
    rs2414451,2
    C,F,A,H--32797072(-) CTAGTG/AGAAAC 6 -- int124Minor allele frequency- A:0.31MN EA NS NA WA CSA 4031
    rs1893348661,2
    --32797088(+) CCTTCA/GTCCTC 2 -- int10--------
    rs2414441,2
    C,F,A,H--32797109(-) CTGTGC/TAGAAT 6 -- int110Minor allele frequency- T:0.22NS NA WA EA 482
    rs2414431,2
    C,F,A,H--32797115(-) ATCAGA/CCTGTG 6 -- int112Minor allele frequency- C:0.28MN NA WA CSA EA 558
    rs2004808791,2
    --32797145(+) CAGGCC/TCCACT 6 -- int10--------
    rs413165481,2
    C,F--32797167(+) TCTCAC/TGGTAC 6 -- int13Minor allele frequency- T:0.04NA EA EU 490
    rs2414421,2
    C,F,A,H--32797168(-) AGTACC/TGTGAG 6 -- int115Minor allele frequency- T:0.30EA NS NA WA CSA EU 1807
    rs1121989511,2
    C,F--32797176(+) ACTCAC/G/TGGCCT 6 -- spd12NA 3944
    rs2003185791,2
    C--32797177(+) CTCACA/GGCCTG 12 A syn10--------
    rs1458946631,2
    C,F--32797189(+) TCGCAC/TTGCAC 12 Q syn12Minor allele frequency- T:0.00NA EU 4673
    rs1419265201,2
    F--32797231(+) AGGACC/TCGCGG 4 R syn11Minor allele frequency- T:0.00NA 4510
    rs747708121,2
    C,F--32797283(+) GTCCCG/ACAGCC 12 /A /V mis12Minor allele frequency- A:0.02WA NA 4662
    rs1138459741,2
    C--32797296(+) CTGGCA/G/TTCCCT 18 S R C mis11CSA 1
    rs2414411,2
    C,F,A--32797297(-) AAGGGA/GAGCCA 12 G syn1 trp332Minor allele frequency- G:0.27MN EA NA WA CSA EU 10647
    rs22295271,2
    C,F,H--32797309(-) GATGTA/CGGGGA 12 V syn1 trp39Minor allele frequency- C:0.07MN NS EA WA NA EU 6462
    rs2414401,2
    C,F,A,H--32797361(-) GTGTTG/ATCTGT 6 -- int122Minor allele frequency- A:0.29MN EA NS NA CSA WA EU 5188
    rs1822149211,2
    --32797433(+) AGTGCA/GGGGAG 2 -- int10--------
    rs7628081,2
    C,F,H--32797466(-) GTCCCC/TACCCC 6 -- int17Minor allele frequency- T:0.05NS EA WA NA 654
    rs1875888391,2
    --32797476(+) CCTGAC/TGGGGC 2 -- int10--------
    rs41488741,2
    C,F,A--32797488(-) CCTCCA/GTGGGC 6 -- int111Minor allele frequency- G:0.22NA WA CSA EA 375
    rs2414391,2
    C,F,A,H--32797537(-) TCTTGA/CTCAAG 6 -- int128Minor allele frequency- C:0.41MN NS EA NA WA CSA 3125
    rs2414381,2
    C,F,A,H--32797620(-) CTGTAG/ACTTGA 6 -- int138Minor allele frequency- A:0.37MN NS EA NA WA CSA 4160
    rs2414371,2
    C,F,A,H--32797684(-) TAAGCT/CTGCTC 6 -- int131Minor allele frequency- C:0.39MN NS EA WA NA CSA EU 4176
    rs1471504151,2
    C,F--32797726(+) TGCTCC/TATTTC 12 I M mis11Minor allele frequency- T:0.00NA 4540
    rs790981501,2
    C,F--32797747(+) TCATCT/CGCGTG 12 /A syn12Minor allele frequency- C:0.00NA EU 5577
    rs1445439181,2
    C--32797750(+) TCTGCG/ATGGGC 4 /H syn11Minor allele frequency- A:0.00NA 4540
    rs1998928411,2
    C--32797762(+) GCCTGG/CGCAGC 12 /A syn11Minor allele frequency- C:0.00EU 1213
    rs783281071,2
    C,F--32797769(+) CAGCCG/ACCATC 12 /A /V mis11Minor allele frequency- A:0.00NA 4542
    rs22283911,2,4
    C,F,H--32797773(-) AGGTGA/GTGGCG 12 M V mis126Minor allele frequency- G:0.01MN EA NS WA NA EU 9857
    rs22283961,2,4
    C,F,H--32797809(-) ACATTG/ACTTAT 12 /T /A mis120Minor allele frequency- A:0.09MN NS EA NA CSA WA EU 8333
    rs1510646611,2
    C,F--32797847(+) CAGGCT/CCCTGC 12 /E /G mis11Minor allele frequency- C:0.00NA 4540
    rs2414361,2
    C,F,A,H--32797876(-) GTCCCT/CGCTGC 6 -- int132Minor allele frequency- C:0.45MN NS EA NA WA CSA EU 4830
    rs1384508151,2
    C--32797878(+) AGCAGA/GGACAG 6 -- int10--------
    rs561738141,2
    C,F--32797974(+) CTTCCC/TGTGGA 6 -- int14Minor allele frequency- T:0.05WA CSA NA 242
    rs557895611,2
    C--32798021(+) GTCCC-/CTGTCTT 6 -- int10--------
    rs1852806111,2
    C--32798026(+) CTGTCC/TTCTCC 2 -- int10--------
    rs1409691891,2
    C--32798091(+) TTCATC/TCAGCA 12 N D mis11Minor allele frequency- T:0.00NA 4542
    rs1502171911,2
    C,F--32798180(+) CCAGCG/ACCGTC 12 /A /V mis12Minor allele frequency- A:0.00NA EU 5847
    rs1468014691,2
    C,F--32798183(+) GCGCCG/ATCACC 12 /T /M mis11Minor allele frequency- A:0.00NA 4536
    rs1404883501,2
    F--32798209(+) GTAAAC/TGTCAG 4 T syn11Minor allele frequency- T:0.00NA 4506
    rs2019740071,2
    C,F--32798224(+) TAGAAA/GACCAG 6 -- int11Minor allele frequency- G:0.00EU 855
    rs2414351,2
    C,F,H--32798243(-) CAGGCC/TCTTAA 6 -- int17Minor allele frequency- T:0.04MN NS EA NA EU 1419
    rs1419375981,2
    C--32798248(+) GGCCTA/GCCCCT 6 -- int10--------
    rs93803261,2
    C,F,A,H--32798283(+) TCTTCT/CTAGCA 6 -- int1 trp322Minor allele frequency- C:0.09NS EA NA CSA WA 2762
    rs93687441,2
    C,H--32798299(+) AAGACC/TAGGTT 6 -- int13Minor allele frequency- T:0.03NS EA 358
    rs93803271,2
    C--32798350(+) GCATTA/CGCAGC 6 -- int14Minor allele frequency- C:0.10NA WA EA 360
    rs1502533191,2,4
    C,F--32798457(+) CACAAC/TCCCCT 12 I V mis12Minor allele frequency- T:0.01NA EU 5863
    rs1379824191,2
    C,F--32798458(+) ACAACC/TCCCTG 12 G syn12Minor allele frequency- T:0.01NA EU 5861
    rs1494952081,2
    C,F--32798482(+) GCAAGC/TGTGCC 12 T syn12Minor allele frequency- T:0.01NA EU 5863
    rs10421161,2
    C,F,H--32798548(-) AGCAAC/TGTGGG 12 N syn138Minor allele frequency- A:0.01NS EA MN WA NA EU 10825
    rs1153036731,2
    C,F--32798598(+) AGGAAT/CGGGAG 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1172868581,2
    C,F--32798608(+) GAGCCG/AGCTAA 6 -- int11Minor allele frequency- A:0.07EA 120
    rs1459280731,2
    C--32798609(+) AGCCGC/GCTAAT 6 -- int10--------
    rs1398236291,2
    C--32798622(+) AACACA/CCTTCT 6 -- int10--------
    rs1418127751,2
    C--32798645(+) CCTCCC/TAACTC 6 -- int10--------
    rs1462671111,2
    --32798646(+) CTCCCA/GACTCC 2 -- int10--------
    rs562944061,2
    C--32798647(+) TCCCAA/G/TCTCCT 6 -- int14NA WA EA 360
    rs1178211,2
    C,F,O,A--32798711(-) TTAAAG/AGTGGA 6 -- int116Minor allele frequency- A:0.47NA WA CSA EA 529
    rs10151661,2
    C,F,A,H--32798731(+) TTGGAC/TGGAAT 6 -- int130Minor allele frequency- T:0.27NS EA NA MN WA 3542
    rs1484884791,2
    C--32798777(+) GCAATA/GTAAAG 6 -- int10--------
    rs2414341,2
    C,F--32798789(-) GGACTG/ATATAT 6 -- int18Minor allele frequency- A:0.20MN NA CSA WA EA 550
    rs2414331,2
    C,F,A,H--32798795(-) GAGAAT/GGGACT 6 -- int1 trp328Minor allele frequency- G:0.46MN NS EA WA NA CSA 3127
    rs1901365501,2
    --32798935(+) GTAGCC/TGTCAG 2 -- int10--------
    rs1426154041,2
    --32798940(+) CGTCAC/GAGTGC 2 -- int10--------
    rs1814168171,2
    --32798950(+) CCCAGA/CGCAGT 2 -- int10--------
    rs1509943331,2
    C--32799057(+) AGAGAC/TCTAAA 6 -- int10--------
    rs1397331021,2
    C--32799126(+) GGGAAC/GTCTCC 6 -- int10--------
    rs287248971,2
    C,F--32799157(+) AATACA/GTGAAG 6 -- int11Minor allele frequency- G:0.04NA 120
    rs1447217181,2
    C--32799285(+) AATGCA/GTCACC 2 -- int10--------
    rs125247511,2
    C,F,H--32799293(+) accacC/Ataaaa 6 -- int15Minor allele frequency- A:0.00NS EA NA 422
    rs340856301,2
    C--32799329(+) AAAAAC/ACCCCT 6 -- int11Minor allele frequency- A:0.50NA 2
    rs1859429481,2
    C--32799330(+) AAAAAA/CCCCTC 2 -- int10--------
    rs1415619761,2
    C--32799420(+) AGTCAA/GCAAAA 6 -- int10--------
    rs1453820231,2
    C--32799456(+) ACAAAA/CAACCT 6 -- int10--------
    rs1919845941,2
    --32799470(+) TCTTCA/GACAAA 2 -- int10--------
    rs607370191,2
    C--32799477(+) AATAA-/ACTGTG 6 -- int10--------
    rs69366691,2
    C,F--32799554(+) atagaT/Cagaca 6 -- int11Minor allele frequency- C:0.09WA 118
    rs1174527051,2
    C,F--32799600(+) TGTGGA/GCCATT 2 -- int11Minor allele frequency- G:0.04EA 120
    rs1837989981,2
    --32799662(+) TACATA/GGATAC 2 -- int10--------
    rs1835851,2
    C,F,H--32799673(-) ttccaC/Tttgtg 6 -- int114Minor allele frequency- T:0.24NS EA NA CSA WA 1200
    rs1492317351,2
    C--32799685(+) TTTGAC/GAATTG 2 -- int10--------
    rs1157360141,2
    F--32799817(+) TATACA/GATATC 2 -- int11Minor allele frequency- G:0.03WA 118
    rs600458561,2
    C,F--32799845(+) TAATAT/GGGGTG 6 -- int14Minor allele frequency- G:0.08WA NA 242
    rs413165521,2
    C,F--32799923(+) ATGTAT/CACATG 6 -- int16Minor allele frequency- C:0.15NA CSA WA EA 363
    rs28569921,2
    C,F,H--32800221(-) GGKGTG/ACAGAT 12 /V syn1 ese322Minor allele frequency- A:0.02NA MN NS EA WA EU 9035
    rs1138398581,2
    C--32800223(+) CTGCAC/G/TCCCCA 18 M L V mis11CSA 2
    rs22283971,2
    C,F,A,H--32800224(-) TTGGGG/TGTGCA 12 G syn151Minor allele frequency- T:0.25MN NS EA NA WA CSA EU 12357
    rs1483538361,2
    C--32800243(+) CCTGGA/GAGAGG 6 -- int11Minor allele frequency- G:0.00EU 1259
    rs94618141,2
    C,H--32800244(+) CTGGAA/TGAGGA 6 -- int1 trp35Minor allele frequency- T:0.00NS EA EU 1671
    rs1996189701,2
    --32800249(+) AGAGG-/AGAAGAAA 6 -- int10--------
    rs2009226061,2
    --32800251(+) AGGAG-/AAGA  
            
    AAGAG
    6 -- int10--------
    rs1446885481,2
    C--32800291(+) TCCCCC/GTCTCT 6 -- int11Minor allele frequency- G:0.00EU 1057
    rs1113039941,2,4
    C,F--32800427(+) CAAGGC/TGCGTT 12 T A mis13Minor allele frequency- T:0.02CSA NA EU 5867
    rs1892102201,2
    --32800558(+) CCACCC/TGCCCC 4 Q R mis10--------
    rs1486636001,2
    C--32800564(+) GCCCCC/GCCCTG 12 A G mis10--------
    rs1437262881,2
    C,F--32800577(+) CACTGC/TATCCT 12 T A mis12Minor allele frequency- T:0.00NA EU 5863
    rs1907804231,2
    --32800685(+) TGCTCC/TCTAGT 2 -- int10--------
    rs94692821,2
    C,H--32800755(+) TAAGAG/CTGAAG 6 -- int14Minor allele frequency- C:0.00NS EA 420
    rs132085831,2
    C,F,H--32800871(+) TGAATC/TAGGAA 6 -- int16Minor allele frequency- T:0.03NS EA NA 542
    rs1823189321,2
    --32801081(+) CAGACG/TTCATC 2 -- int10--------
    rs2018134761,2
    --32801111(+) CATCA-/AAGAACTC 6 -- int10--------
    rs1870231841,2
    --32801164(+) TATTTA/GTGAAT 2 -- int10--------
    rs1918417251,2
    --32801300(+) CACACA/GAAAAG 2 -- int10--------
    rs1380822441,2
    C--32801325(+) CTAATC/TATTAG 6 -- int10--------
    rs1495387211,2
    C--32801480(+) AAATGC/GTGCTG 2 -- int10--------
    rs1844295781,