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

TBXAS1 Gene

protein-coding   GIFtS: 72
GCID: GC07P139476

Thromboxane A Synthase 1 (Platelet)

(Previous names: thromboxane A synthase 1 (platelet, cytochrome P450, subfamily...)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Thromboxane A Synthase 1 (Platelet)1 2     Subfamily A1
CYP52 3 5     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)1
Cytochrome P450 5A12 3     BDPLT142
CYP5A12 3     THAS2
TXS2 3     TS2
TXA Synthase2 3     TXAS2
EC 5.3.99.53 8     Cytochrome P450, Family 5, Subfamily A, Polypeptide 12
GHOSAL2 5     Platelet, Cytochrome P450, Subfamily V2
Cytochrome P4501     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily
A)2
Family 51     Thromboxane-A Synthase2
Polypeptide 11     

External Ids:    HGNC: 116091   Entrez Gene: 69162   Ensembl: ENSG000000593777   OMIM: 2741805   UniProtKB: P245573   
ORGUL members:         
NONCODE14:n408329 n341338      

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772


(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 TBXAS1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of
sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the
conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation.
The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and
stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Aug 2008)

GeneCards Summary for TBXAS1 Gene: 
TBXAS1 (thromboxane A synthase 1 (platelet)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with TBXAS1 include aregenerative anemia, and cytochrome p450, and among its related super-pathways are Prostaglandin 2 biosynthesis and metabolism FM and Arachidonic acid metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F22.

Gene Wiki entry for TBXAS1 (Thromboxane-A synthase) 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_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBXAS1 gene promoter:
         STAT1   RP58   GATA-3   C/EBPalpha   GATA-1   GATA-2   FOXO1a   Sox9   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBXAS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBXAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBXAS1


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

Entrez Gene cytogenetic band: 7q34-q35   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34-q35

TBXAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBXAS1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P139476:  view genomic region     (about GC identifiers)

Start:
139,476,850 bp from pter      End:
139,720,125 bp from pter
Size:
243,276 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 138,807,008-139,048,964     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TBXAS1

(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: THAS_HUMAN, P24557 (See protein sequence)
Recommended Name: Thromboxane-A synthase  
Size: 533 amino acids; 60518 Da
Cofactor: Heme group
Subunit: Monomer
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Caution: It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not
in other mammals
Sequence caution: Sequence=AAC01761.1; Type=Erroneous gene model prediction; Sequence=AAC01761.1; Type=Erroneous
initiation; Sequence=AAF99269.1; Type=Erroneous initiation; Sequence=AAF99270.1; Type=Erroneous initiation;
Sequence=AAF99271.1; Type=Erroneous initiation; Sequence=AAF99272.1; Type=Erroneous initiation;
Sequence=AAF99273.1; Type=Erroneous initiation; Sequence=AAF99274.1; Type=Erroneous initiation;
Sequence=AAF99275.1; Type=Erroneous initiation; Sequence=AAF99276.1; Type=Erroneous initiation;
Sequence=AAF99277.1; Type=Erroneous initiation; Sequence=AAF99278.1; Type=Erroneous initiation;
Sequence=AAF99279.1; Type=Erroneous initiation; Sequence=AAH41157.1; Type=Erroneous initiation;
Secondary accessions: E7ESB5 O14987 Q16844 Q8IUN1 Q96CN2 Q9GZW4 Q9HD77 Q9HD78 Q9HD79 Q9HD80
Q9HD81 Q9HD82 Q9HD83 Q9HD84
Alternative splicing: 2 isoforms:  P24557-1   P24557-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBXAS1: NX_P24557

Explore proteomics data for TBXAS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P24557

  • 4/6 DME Specific Peptides for TBXAS1 (P24557) (see all 6)
     GYYLGRRM  VVASVAFG  AVGALHHDP  FFRQGFWES 

    TBXAS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBXAS1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001052.2  NP_001124438.1  NP_001159725.1  NP_001159726.1  NP_112246.2  

    ENSEMBL proteins: 
     ENSP00000388736   ENSP00000388612   ENSP00000338087   ENSP00000402536   ENSP00000415892  
     ENSP00000391567   ENSP00000411274   ENSP00000411326   ENSP00000412710   ENSP00000263552  
     ENSP00000389414   ENSP00000392361   ENSP00000392702   ENSP00000444626  
    Reactome Protein details: P24557
    Human Recombinant Protein Products for TBXAS1: 
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    Novus Biologicals TBXAS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    TBXAS1 for ontologies           About GeneDecksing



    TBXAS1 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP5A1 
    CYP5, CYP7 and CYP8 families

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

    Graphical View of Domain Structure for InterPro Entry P24557

    ProtoNet protein and cluster: P24557

    3 Blocks protein domains:
    IPB002401 E-class P450 group I signature
    IPB002402 Group II E-class P450 signature
    IPB008072 CYP3A P450 family signature


    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
    Similarity: Belongs to the cytochrome P450 family


    TBXAS1 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: THAS_HUMAN, P24557
    Catalytic activity: (5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15-hydroxyprosta-5,13-dienoate =
    (5Z,13E)-(15S)-9-alpha,11-alpha-epoxy-15-hydroxythromboxa-5,13-dienoate

         Genatlas biochemistry entry for TBXAS1:
    thromboxane synthase,cytochrome p450 superfamily

         Enzyme Number (IUBMB): EC 5.3.99.51 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0004796thromboxane-A synthase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
         
    TBXAS1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbxas1):
     hematopoietic system  homeostasis/metabolism  immune system 

    TBXAS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbxas1tm1Swl for TBXAS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBXAS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBXAS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBXAS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBXAS1 

    miRNA
    Products:
        
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBXAS1 (see all 10):
    hsa-miR-301b hsa-miR-519c-3p hsa-miR-301a hsa-miR-519a hsa-miR-3666 hsa-miR-519b-3p hsa-miR-454 hsa-miR-4295
    SwitchGear 3'UTR luciferase reporter plasmidTBXAS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1


    (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 TBXAS1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    Synthesis of Prostaglandins (PG) and Thromboxanes (TX)0.42
    C20 prostanoid biosynthesis0.40
    Prostaglandin 2 biosynthesis and metabolism FM0.42
    2Arachidonic acid metabolism
    Arachidonic acid metabolism0.44
    HETE and HPETE biosynthesis and metabolism0.35
    Arachidonic acid metabolism0.44
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    5Biological oxidations
    Biological oxidations0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for TBXAS1
        Prostaglandin 2 biosynthesis and metabolism FM
    HETE and HPETE biosynthesis and metabolism


    2 GeneGo (Thomson Reuters) Pathways for TBXAS1
        HETE and HPETE biosynthesis and metabolism
    Prostaglandin 2 biosynthesis and metabolism FM

    3 BioSystems Pathways for TBXAS1
        Eicosanoid Synthesis
    Prostaglandin Synthesis and Regulation
    C20 prostanoid biosynthesis

    5/8        Reactome Pathways for TBXAS1 (see all 8)
        Cytochrome P450 - arranged by substrate type
    Eicosanoids
    Metabolism
    Arachidonic acid metabolism
    Biological oxidations

    3 PharmGKB Pathways for TBXAS1
        Celecoxib Pathway, Pharmacodynamics
    Phenytoin Pathway, Pharmacokinetics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for TBXAS1):
        Arachidonic acid metabolism
    Metabolic pathways


    TBXAS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBXAS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for TBXAS1 (P245572, 3 ENSP000002635524) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631043I2D: score=1 
    HPGDSENSP000002952564STRING: ENSP00000295256
    PTGDSENSP000003606874STRING: ENSP00000360687
    PTGESENSP000003423854STRING: ENSP00000342385
    PTGES2ENSP000003453414STRING: ENSP00000345341
    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:0006690icosanoid metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0019369arachidonic acid metabolic process TAS--
    GO:0019371cyclooxygenase pathway TAS--
    GO:0030644cellular chloride ion homeostasis ----

    TBXAS1 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

    TBXAS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for TBXAS1

    Browse Tocris compounds for TBXAS1 (THAS)

    4 HMDB Compounds for TBXAS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Prostaglandin H2Prostaglandin-H2 (see all 27)42935-17-1--
    ThromboxaneThromboxane A2 66719-58-2--
    Thromboxane A2(1S-(1alpha,3alpha,3R*),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoate (see all 25)57576-52-0--

    2 DrugBank Compounds for TBXAS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ridogrel-- 110140-89-1targetinhibitor8376914 11856082 8313547 10848666 10592235 11270983
    Dazoxiben-- --targetinhibitor17139284 11752352 17016423 10592235

    10/22 Novoseek inferred chemical compound relationships for TBXAS1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thromboxane 89.8 50 16250911 (3), 8325653 (2), 16134166 (2), 7925341 (2) (see all 38)
    thromboxane a2 89.8 79 8325653 (2), 11006279 (2), 19403042 (2), 8306107 (2) (see all 38)
    prostaglandin-h2 89 20 11006279 (3), 18590695 (3), 16297851 (2), 16134166 (1) (see all 11)
    pgh2 85.7 15 11297515 (4), 7700866 (2), 7488650 (1), 8964509 (1) (see all 8)
    12-hydroxy-5,8,10-heptadecatrienoic acid 85.6 3 12859980 (2)
    prostacyclin 70.5 21 11006279 (1), 12154203 (1), 18590695 (1), 19748489 (1) (see all 13)
    pgd2 61 1 10359019 (1)
    txb2 59.4 2 8444174 (1), 10359019 (1)
    arachidonic acid 58.9 10 9063093 (1), 7488650 (1), 8444174 (1), 18264100 (1) (see all 7)
    clotrimazole 43.9 2 11297515 (1), 9873013 (1)

    Search CenterWatch for drugs/clinical trials and news about TBXAS1 / THAS

    (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,
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    About This Section

    REFSEQ mRNAs for TBXAS1 gene (5 alternative transcripts): 
    NM_001061.4  NM_001130966.2  NM_001166253.1  NM_001166254.1  NM_030984.3  

    Unigene Cluster for TBXAS1:

    Thromboxane A synthase 1 (platelet)
    Hs.520757  [show with all ESTs]
    Unigene Representative Sequence: NM_001130966
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000493340 ENST00000462053 ENST00000473948 ENST00000425687 ENST00000474763
    ENST00000481440 ENST00000438104 ENST00000336425 ENST00000448866 ENST00000422328
    ENST00000492560 ENST00000455353 ENST00000458722 ENST00000411653 ENST00000476637
    ENST00000462275(uc011kqu.2) ENST00000414041 ENST00000469630
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1
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    Additional mRNA sequence: 

    AK223466.1 AK296069.1 AK301049.1 AK301164.1 AK303440.1 BC014117.2 BC041157.1 M74055.1 
    M80646.1 M80647.1 NR_029394.1 S60133.1 

    15 DOTS entries:

    DT.97782814  DT.99992833  DT.455401  DT.121056733  DT.100022756  DT.121643591  DT.100780064  DT.95284796 
    DT.91644383  DT.100017058  DT.100710582  DT.40244924  DT.101967262  DT.40231588  DT.95282732 

    24/135 AceView cDNA sequences (see all 135):

    CB117531 AL551161 CB121763 AA907907 BG326666 CA437040 BM673654 CD368493 
    BC014117 BG255550 BM672386 CD367977 AU099213 AW615299 BC041157 CR625096 
    BQ030101 BU616000 AI872272 BQ027613 BQ101037 AU076426 BQ710761 BU617092 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TBXAS1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                      -     -                             -                       -                                 
    SP2:                                      -     -                             -                       -                 -               
    SP3:                                      -                                                                                             
    SP4:                                            -                                                                                       
    SP5:                                      -     -     -                                                                                 


    ECgene alternative splicing isoforms for TBXAS1

    (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

    TBXAS1 expression in normal human tissues (normalized intensities)      TBXAS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGGATAAG
    TBXAS1 Expression
    About this image


    TBXAS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
             skeleton/axial skeleton   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Eye (Sensory Organs)
             Human Trabecular Meshwork Cells (HTMC)   
     
     Somite (Muscoskeletal System)
             skeleton/axial skeleton   

    See TBXAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBXAS1

    SOURCE GeneReport for Unigene cluster: Hs.520757

    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
    Tissue specificity: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts

        SABiosciences Custom PCR Arrays for TBXAS1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TBXAS1
    OriGene qSTAR qPCR primer pairs in human, mouse for TBXAS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBXAS1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBXAS1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBXAS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1

    (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 TBXAS1 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 Tbxas11 , 5 thromboxane A synthase 1, platelet1, 5 82.86(n)1
    81.61(a)1
      6 (17.85 cM)5
    213911  NM_011539.31  NP_035669.31 
     388754045 
    chicken
    (Gallus gallus)
    Aves TBXAS11 thromboxane A synthase 1 (platelet) 65.94(n)
    64.34(a)
      418101  XM_416334.3  XP_416334.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBXAS16
    thromboxane A synthase 1 (platelet)
    59(a)
    1 ↔ 1
    5(16882913-17160003)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059313.12   -- 74.44(n)    BC059313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk19d082 Danio rerio clone RK064A2E01 thromboxane A synthase more 73.62(n)    AY398422.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp9c13 cytochrome P450 29(a)
    (best of 14)
      2 60D10   --
    worm
    (Caenorhabditis elegans)
    Secernentea T10B9.73 cytochrome P450 29(a)
    (best of 7)
      II(9783728-9787263)   --
    rice
    (Oryza sativa)
    Liliopsida Os02g02219001 hypothetical protein 46.03(n)
    30.44(a)
      4328761  NM_001052860.1  NP_001046325.1 


    ENSEMBL Gene Tree for TBXAS1 (if available)
    TreeFam Gene Tree for TBXAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBXAS1 gene
    CYP4F222  CYP4F32  CYP4F22  CYP4F112  CYP3A432  CYP3A42  CYP4A222  CYP3A72  
    CYP4V22  CYP4B12  CYP3A52  CYP4A112  CYP4Z12  CYP4F122  CYP4X12  
    7 SIMAP similar genes for TBXAS1 using alignment to 12 protein entries:     THAS_HUMAN (see all proteins):
    thromboxane synthase    CYP3A5    CYP3A43    CYP3A43/CYP3A4    CYP3A4    CYP3A7
    CYP2E1

    TBXAS1 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

    4379/5274 SNPs in TBXAS1 are shown (see all 5274)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443894
    Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443892 G W mis40--------
    VAR_0362944
    A breast cancer sample4--see VAR_0362942 R W mis40--------
    VAR_0443904
    Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443902 L P mis40--------
    VAR_0443884
    Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443882 R Q mis40--------
    VAR_0443864
    Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443862 L P mis40--------
    rs1400052851,2
    Cpathogenic1142973741(+) CTATCT/CTGGTC 11 /P /L mis11Minor allele frequency- C:0.00NA 4552
    rs1994221171,2
    Cpathogenic1143078122(+) CACACG/AGGAGG 11 /Q /R mis11Minor allele frequency- A:0.00EU 1323
    rs1994221161,2
    Cpathogenic1143080140(+) GCCTCA/G/TGGGTG 10 G W mis1 int11EU 1305
    rs1994221141,2
    Cpathogenic1143080159(+) GCTGCC/TTGAGG 10 P L mis1 int10--------
    VAR_0183804
    ----see VAR_0183802 R Q mis40--------
    VAR_0109234
    ----see VAR_0109232 E K mis40--------
    VAR_0109204
    ----see VAR_0109202 N S mis40--------
    VAR_0109254
    ----see VAR_0109252 R Q mis40--------
    VAR_0183784
    ----see VAR_0183782 V I mis40--------
    rs1496036601,2
    C--133803236(+) TAGAT-/GATAG 
     ATAGATA
    GATAG
    2 -- int10--------
    rs19745311,2
    C--133944589(-) GGTCCC/TGTAGA 6 -- int110Minor allele frequency- T:0.28NA WA CSA EA 371
    rs1488892221,2
    C--134004910(+) AAAAA-/AAAC  
            
    AAACA
    6 -- int10--------
    rs1112269751,2
    C--138811222(+) GGGTC-/T/TT  
            
    TTTTT
    2 -- int11CSA 2
    rs1126059661,2
    C--138812111(+) AAAAAA/-TGCAA 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs343723261,2
    C--138813661(+) TCCAT-/AA    
       G
    /AGA
    AGGAG
    4 -- cds10--------
    rs587391421,2
    C--138813663(+) CATAG-/AAGGAGGT 2 -- cds10--------
    rs358012341,2
    C--138814228(+) TTGTTGTT/-TTTTG 2 -- cds11Minor allele frequency- -:0.00CSA 2
    rs3704291171,2
    C--138814229(+) TTTCG-/GTTTTGTT 2 -- cds10--------
    rs2011658541,2
    --138820566(+) ATGTT-/TTGTTTTT 2 -- int10--------
    rs598478951,2
    C--138820568(+) GTTTT-/GTTTTT 2 -- int10--------
    rs794164981,2
    C--138820568(+) GTTTTT/GTTTTT 2 -- int12Minor allele frequency- G:0.33NA CSA 3
    rs718225771,2
    C--138827836(+) ACTGC-/TTTTTTT 2 -- int10--------
    rs355553851,2
    C--138827995(+) TTTTTT/-GAGAC 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs69548291,2
    C,F,A--138828930(+) GCCCCT/GTCAAT 2 -- int16Minor allele frequency- G:0.18NA WA EA 364
    rs1999052451,2
    --138828930(+) GCCCC-/GTCAAT 2 -- int10--------
    rs69704381,2
    C,F,A--138828931(+) CCCCGC/TCAATC 2 -- int16Minor allele frequency- T:0.19NA WA EA 364
    rs722548581,2
    C--138834491(+) CTCTC-/TTTCTTT 2 -- int10--------
    rs665496831,2
    C--138838001(+) TAGAT-/AGATAG 2 -- int10--------
    rs583497321,2
    --138838117(+) ATAGAC/TAGACA 2 -- int10--------
    rs1119668881,2
    C--138859275(+) TTTTT-/TT/TTT
            
    GAACT
    11 -- int1 cds11CSA 2
    rs350988191,2
    C--138861149(+) AAAAA-/ATAAAA 6 -- int11Minor allele frequency- A:0.50CSA 2
    rs1420600081,2
    C--138863803(+) AATTC-/TTTTTT 6 -- int10--------
    rs2013674971,2
    C--138864773(+) TGCAA-/AAAT  
            
    AAATA
    6 -- int10--------
    rs573865321,2
    C--138864820(+) ATAAA-/TAAA  
            
    ATACT
    6 -- int11Minor allele frequency- TAAA:0.00NA 2
    rs760884541,2
    C--138866210(-) GCTGCG/ACAGTA 6 -- int11Minor allele frequency- A:0.00NA 2
    rs357634261,2
    C--138882004(+) AAACA-/GGGGCT 6 -- int10--------
    rs58879391,2
    C--138906947(+) GAGAT-/AGAG  
            
    AGAGA
    6 -- int10--------
    rs1464451971,2
    --138918935(+) TGCAG-/TCTTT 
            
    TTTTT
    6 -- int10--------
    rs1437086821,2
    C--138927140(+) CATGG-/CT    
       TTTTT
    TTTTT
    6 -- int10--------
    rs49914511,2
    --138979412(+) ATCTAC/TGGGAC 6 -- int10--------
    rs417311,2
    C--138980510(-) CCTTCC/TTTCTT 6 -- int1 trp30--------
    rs2012570961,2
    C--138980607(+) AAGAA-/AA    
       GAAAG
    AAAGA
    6 -- int10--------
    rs106260041,2
    C--138980608(+) gaaaa-/A/AG  
     AAA
    /GAA
    gaaag
    11 -- int1 cds11NA 2
    rs117627541,2
    C,H--138980669(+) AGAAAG/AAGAAA 6 -- int1 trp33Minor allele frequency- A:0.00NA CSA 5
    rs1155153851,2
    F--139038498(+) ACAGCC/TGCCCC 6 -- int11Minor allele frequency- T:0.02WA 118
    rs1161122051,2
    C,F--139038529(+) TGCCCG/ACCCCA 6 -- int13Minor allele frequency- A:0.36WA NA EA 358
    rs669096891,2
    C--139038574(+) TGCCC-/CACACCTG 6 -- int11Minor allele frequency- CAC:0.00NA 2
    rs666339401,2
    C--139040036(+) AGAAG-/AGAA  
            
    AGATA
    6 -- int10--------
    rs558735811,2
    C--139040039(+) AGAGA-/AAGA  
            
    TAGAA
    6 -- int10--------
    rs582514561,2
    C--139476089(+) AAAAA-/ATATTT 2 -- us2k10--------
    rs592528541,2
    C--139483810(+) TTTTT-/T/TT  
            
    GTATT
    2 -- int10--------
    rs610315371,2
    C--139485668(+) CCCAG-/AGTGTCC 2 -- int10--------
    rs717241001,2
    C--139488805(+) CTTAT-/TAAATC 2 -- int10--------
    rs106178911,2
    C--139491608(+) TTTTG-/T/TT  
            
    TTTTT
    2 -- int10--------
    rs592631611,2
    C--139498875(+) ACTGC-/TTTTTT 2 -- int10--------
    rs560972811,2
    C--139501269(+) TTTTTT/-CTTTT 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs117738581,2
    C,H--139505511(+) TTTCTC/TTCTCT 2 -- int1 trp30--------
    rs113588401,2
    C--139508779(+) TTCAT-/AAAAAA 2 -- int1 trp30--------
    rs603996181,2
    C--139508952(+) ATAGA-/TAGA/ 
    TAGATAGA
    ACCAA
    2 -- int10--------
    rs723825311,2
    C--139508998(+) TAGAT-/GATA  
            
    GATAG
    2 -- int10--------
    rs105671411,2
    C--139509029(+) tagat-/AGA   
      T
    /GATA
    gatag
    2 -- int12NA 4
    rs2022026501,2
    C--139509119(+) ATAGA-/TAGA  
            
    CAGAC
    2 -- int10--------
    rs559174531,2
    C--139509120(+) GAGAT-/TAGA  
            
    TAGAT
    2 -- int11Minor allele frequency- TAGA:0.00NA 2
    rs724124621,2
    C--139512883(+) AAAAT-/AAAATA 2 -- int10--------
    rs107126881,2
    C,F--139524936(+) GTTGAT/-TTTTT 2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs559790671,2
    C--139533492(+) AAAAA-/AGAGAG 6 -- int10--------
    rs58879361,2
    C--139541282(+) TTCCC-/TTTTTT 6 -- int1 trp30--------
    rs557444961,2
    C--139541431(+) TATTA-/TTTTTT 6 -- int11Minor allele frequency- T:0.00CSA 2
    rs38317171,2
    C--139549200(+) ACAAC-/AAAAAA 6 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs113362311,2
    C--139560974(+) GTCTC-/AAAAAA 6 -- int1 trp31Minor allele frequency- A:0.50CSA 2
    rs581631461,2
    C--139561219(+) TTTTT-/TGGATC 6 -- int10--------
    rs569821061,2
    C--139566639(+) AAAAA-/ACCAAG 6 -- int10--------
    rs722274451,2
    C--139567618(+) AAATA-/AATA  
            
    ATAAA
    6 -- int10--------
    rs30702231,2
    C,F--139577907(+) AGAGAGA/-AGGAG 6 -- int1 trp33Minor allele frequency- -:0.33NA CSA 6
    rs30702241,2
    C--139578016(+) AGAGA-/GAGA  
            
    TAGAA
    6 -- int10--------
    rs571760561,2
    C--139579667(+) TGTGT-/GTGTG 
     TGTGTGT
    TTTGT
    6 -- int11Minor allele frequency- GTGTGTGTGTGT:0.00NA 2
    rs32164671,2
    C,F--139588732(+) GAGTTA/-AAAAA 6 -- int1 trp33Minor allele frequency- -:0.33NA CSA 6
    rs573050841,2
    C--139590030(+) TTTTT-/TTT   
       
    /TTTT
    GAGAC
    6 -- int11NA 2
    rs114480951,2
    C--139601125(+) AAAAAA/-GAAGC 6 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs610098341,2
    C--139601867(+) CCAGG-/GAGAAT 6 -- int11Minor allele frequency- G:0.00NA 2
    rs561090641,2
    C--139601881(+) ACCCTG/TGGTAT 6 -- int10--------
    rs587242671,2
    C--139601881(+) CCTGG-/GTATGA 6 -- int11Minor allele frequency- G:0.00NA 2
    rs1382162371,2
    C--139604872(+) TCTCT-/TTCTTTC 6 -- int10--------
    rs358575501,2
    C--139605870(+) GCATC-/TTTTTT 6 -- int11Minor allele frequency- T:0.00NA 2
    rs3684587741,2
    C--139639273(+) AGGCA-/TTTTTT 6 -- int10--------
    rs284341941,2
    --139640785(+) ATATAC/TACACA 6 -- int10--------
    rs81928341,2
    C--139641233(+) AATTG-/TTTTTT 6 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs58879411,2
    C--139647668(+) CAGAC-/TTTTTT 6 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs2005017831,2
    C--139651595(+) GAAAG-/AAAGAA
    AAAGAAAC
    AAAGA
    6 -- int10--------
    rs720519651,2
    C--139651701(+) AGGAA-/AGAAAG
            
    AGAAA
    6 -- int10--------
    rs1996912891,2
    C--139651709(+) AAGAG-/AAAGAA
            
    AGAGA
    6 -- int10--------
    rs715200651,2
    C--139651749(+) AAGAA-/A/AG  
            
    AAAGA
    6 -- int11NA 2
    rs681362321,2
    C--139658807(+) GTGTTCACA/-  
            
    CACAC
    6 -- int11Minor allele frequency- -:0.50CSA 2
    rs106041151,2
    C--139658810(+) cacac-/ACAC  
            
    acaca
    6 -- int11Minor allele frequency- ACAC:0.00NA 2
    rs81928411,2
    C--139669593(+) ACACA-/AGGGGT 6 -- int10--------
    rs113055331,2
    C--139673355(+) CTTTC-/TTTTTT 6 -- int1 trp30--------
    rs355838671,2
    C--139678575(+) AAAAA-/A/AA  
      AAAAAA
    TCAAA
    6 -- int12NA 4
    rs585531051,2
    C--139679528(+) AATAA-/TAAATAAA 6 -- cds1 int10--------
    rs58879471,2
    C--139680740(+) AAAAA-/ATTATA 6 -- int10--------
    rs32164681,2
    C--139684069(+) ACTTAT/-TTTTT 6 -- int11Minor allele frequency- -:0.50CSA 2
    rs719314731,2
    C--139684621(+) AAGAA-/A/AA  
     GA
    /AGAA
    GAAAG
    6 -- int10--------
    rs711709311,2
    C--139693692(+) TTTTT-/TGAGAC 6 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs676331411,2
    C--139700486(+) TTATT-/TTTC  
            
    TTATT
    6 -- int10--------
    rs674491981,2
    C--139711082(+) AAAAAAAAC/-  
            
    AAACA
    6 -- int11Minor allele frequency- -:0.50CSA 2
    rs718313771,2
    C--139711085(+) ACAAA-/CAAA  
            
    CAAAC
    6 -- int10--------
    rs560838491,2
    C--139711101(+) ACAAA-/CAAA  
      
    /CAAAA
    AAAAA
    6 -- int11NA 2
    rs563177931,2
    C--139711143(+) AAAAAA/-GGCCC 6 -- int11Minor allele frequency- -:0.00NA 2
    rs38317201,2
    C--139711637(+) TATAT-/AT/TA 
            
    CCACA
    6 -- int10--------
    rs803488881,2
    C--139714882(+) CAGAAAAAC/-  
            
    AAACA
    6 -- int11Minor allele frequency- -:0.50CSA 2
    rs1999165541,2
    C--139714885(+) AAAAAA/CAAACA 6 -- int10--------
    rs793895601,2
    C--142838918(+) ATAACA/TGATTT 2 -- us2k10--------
    rs747759681,2
    C--142838920(+) AACAGA/CTTTTC 2 -- us2k10--------
    rs1821239141,2
    --142838929(+) TCTTTC/TAAGTT 2 -- us2k10--------
    rs576579151,2
    C--142838945(+) TTTTT-/TAATCA 2 -- us2k10--------
    rs1169194031,2
    F--142838945(+) TTTTTT/AAATCA 2 -- us2k11Minor allele frequency- A:0.22NA 120
    rs96900191,2
    H--142839046(+) CCTCGT/GGCCCT 2 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs1455244311,2
    C--142839104(+) ACAGAA/CTATCT 2 -- us2k10--------
    rs1998119651,2
    --142839128(+) GAAAG-/CCCGGG 2 -- us2k10--------
    rs597054641,2
    C--142839130(+) AAGCCA/-GGGGG 2 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs674466881,2
    C--142839131(+) AGCCG-/AGGGGA 2 -- us2k10--------
    rs777465851,2
    --142839131(+) AAGCCA/GGGGGA 2 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs784853861,2
    C,F--142839193(+) ACATTT/CACACG 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs796013641,2
    C--142839277(+) AGTGTA/GAAAAC 2 -- us2k10--------
    rs102785651,2
    C--142839940(+) AGACCC/TTGCCG 2 -- us2k10--------
    rs22548541,2
    C,F--142840801(-) GCTGGG/ACTCGG 2 -- ut511Minor allele frequency- A:0.17EA 1480
    rs1915194501,2
    C--142840815(+) GCCGAA/GCCGGT 2 -- ut510--------
    rs18605091,2
    C,F--142840891(-) GCGCGA/CACCCT 2 -- ut51 tfbs34Minor allele frequency- C:0.45CSA WA NA EA 359
    rs758466101,2
    C,F--142840939(+) CCCACG/TCTGGC 2 -- ut512Minor allele frequency- T:0.21CSA WA 120
    rs18605081,2
    C,F,A,H--142841203(-) CCTCGG/AGACAG 2 -- int16Minor allele frequency- A:0.19NA WA CSA EA 363
    rs1840013191,2
    C--142841317(+) CCCCAC/GCCGGG 2 -- int10--------
    rs794731531,2
    F--142841402(+) GGAAGA/GCTTGT 2 -- int11Minor allele frequency- G:0.01EA 120
    rs1885509631,2
    --142841413(+) TGAGTC/TTCCTC 2 -- int10--------
    rs1498498441,2
    --142841425(+) TAGGCA/GCTGTT 2 -- int10--------
    rs605260731,2
    C,F--142841480(+) TGCAGC/TGGAAG 2 -- int13Minor allele frequency- T:0.43WA CSA 122
    rs1143761161,2
    C,F--142841509(+) GAACGA/GAATGG 2 -- int11Minor allele frequency- G:0.03WA 118
    rs737356221,2
    C,F--142841603(+) TGGACA/GAGTGT 2 -- int13Minor allele frequency- G:0.26WA CSA 122
    rs737356231,2
    C,F--142841757(+) TTTCCG/TGTCTC 2 -- int13Minor allele frequency- T:0.26WA CSA 122
    rs798445761,2
    C--142841763(+) GTCTCC/TATCCT 2 -- int10--------
    rs1163258891,2
    F--142841783(+) TCCTTC/TAGTCC 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1929351511,2
    --142841785(+) CTTCAC/GTCCTT 2 -- int10--------
    rs1458911061,2
    --142841803(+) AAGGCA/TAGCTC 2 -- int10--------
    rs781719451,2
    C--142841849(+) CCTCTC/GTGTGA 2 -- int10--------
    rs797535031,2
    C--142841850(+) CTCTGA/C/TGTGAT 2 -- int10--------
    rs782763831,2
    C--142841851(+) TCTGTA/GTGATC 2 -- int10--------
    rs792149381,2
    C--142841852(+) CTGTGC/TGATCT 2 -- int10--------
    rs1490203191,2
    --142841902(+) CACTTC/TCTATC 2 -- int10--------
    rs1446082741,2
    --142842081(+) GGTCTC/TGTGGC 2 -- int10--------
    rs22408211,2
    C,F,H--142842141(-) GGGAGG/AATAGA 2 -- int15Minor allele frequency- A:0.03EA NS 1890
    rs1854344601,2
    --142842158(+) CTTTAA/GCTTTA 2 -- int10--------
    rs1160431291,2
    C,F--142842164(+) CTTTAG/ATCTTG 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1903057101,2
    --142842404(+) TCTGTA/CACTGT 2 -- int10--------
    rs45293751,2
    C,F,H--142842511(+) CTCCTC/ACACAA 2 -- int17Minor allele frequency- A:0.14NS NA WA 912
    rs1402988821,2
    --142842533(+) ATAGCA/GTGGGA 2 -- int10--------
    rs781054001,2
    --142842674(+) TTTTGC/TATCTG 2 -- int10--------
    rs1480298411,2
    --142842721(+) AACTCC/TCTGTT 2 -- int10--------
    rs2022332811,2
    C--142842728(+) TGTTA-/ATAC  
            
    ATACC
    2 -- int10--------
    rs1417553901,2
    --142842912(+) AAGGTA/GTCTCT 2 -- int10--------
    rs1501657641,2
    --142842997(+) AACGCA/TTGGTG 2 -- int10--------
    rs1820910061,2
    --142843017(+) CACATA/TTTTGT 2 -- int10--------
    rs1400172371,2
    C--142843035(+) ATGAT-/AGCTGC 2 -- int10--------
    rs765070661,2
    C,F--142843194(+) AAGTTA/GTTATT 2 -- int11Minor allele frequency- G:0.19WA 118
    rs1476323781,2
    C--142843251(+) TTTCC-/TTAGGC 2 -- int10--------
    rs734759291,2
    C,F--142843292(+) CTCTGT/CTGTCC 2 -- int1 ut512Minor allele frequency- C:0.03WA 120
    rs795841091,2
    F--142843410(+) GCCCCT/GGAATT 2 -- int11Minor allele frequency- G:0.01WA 118
    rs413042001,2
    F--142843412(+) CCCTGA/CATTCA 2 -- int11Minor allele frequency- C:0.01NA 120
    rs557006621,2
    C,F--142843577(+) AAGGAA/GATAGA 2 -- int13Minor allele frequency- G:0.27WA CSA 122
    rs1837574661,2
    --142843589(+) TCCCAC/TGGAAG 2 -- int10--------
    rs74556291,2
    C,F,A,H--142843591(+) CCATGG/AAAGGG 2 -- int1 trp310Minor allele frequency- A:0.20NS EA NA WA CSA 545
    rs1883126631,2
    --142843672(+) GAGATA/GCAAAA 2 -- int10--------
    rs1175592721,2
    F--142843706(+) AGTTCG/ATATGA 2 -- int11Minor allele frequency- A:0.01EA 120
    rs1810771971,2
    --142843878(+) AGGAGA/GGAGGA 2 -- int10--------
    rs1857796001,2
    --142843921(+) GAGACA/GTGGGA 2 -- int10--------
    rs1459730741,2
    C--142844130(+) TCACC-/TGAGGT 2 -- int10--------
    rs1386521121,2
    --142844194(+) ACACAA/CAAAAA 2 -- int10--------
    rs664663431,2
    C--142844303(+) CGAGT-/TCTAGTG 2 -- int10--------
    rs598277361,2
    C--142844304(+) GAGTT-/CTAGTGC 2 -- int10--------
    rs1916864281,2
    C--142844427(+) GACTTC/TGGTGA 2 -- int10--------
    rs1816730311,2
    --142844513(+) GAAGGA/GTGGGG 2 -- int10--------
    rs1429632861,2
    --142844554(+) AGAGAC/TTGCTC 2 -- int10--------
    rs737356241,2
    C,F--142844569(+) CAGAGA/GGGGCC 2 -- int14Minor allele frequency- G:0.21WA CSA NA 242
    rs1474630871,2
    --142844630(+) TTGGCG/TAGAGA 2 -- int10--------
    rs1870763481,2
    --142844640(+) ATAGTA/GTGCAT 2 -- int10--------
    rs1113517211,2
    C,F--142844666(+) TAATAA/GGCACA 2 -- int12Minor allele frequency- G:0.04WA 120
    rs22701641,2
    C,F,H--142844672(-) TGCTAA/GTGTGC 2 -- int18Minor allele frequency- G:0.27EA NS CSA WA NA 1951
    rs343545151,2
    C--142844721(+) ATCAC-/TTTTTT 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs1919543151,2
    --142844746(+) ACATGA/GAACTC 2 -- int10--------
    rs771324981,2
    F--142844782(+) TCAGGG/ATGCAT 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1834233231,2
    --142844903(+) CAGGAA/GTTGGT 2 -- int10--------
    rs787152271,2
    C--142844989(+) TTTTT-/T/TC  
            
    TCATG
    2 -- int10--------
    rs1864725051,2
    --142845082(+) ATTTAA/GGTGTG 2 -- int10--------
    rs1439070531,2
    C--142845198(+) TTCCAC/TGTGTG 2 -- ut510--------
    rs786379431,2
    --142845315(+) TCTCTA/GTTTTC 2 -- int10--------
    rs1897990651,2
    --142845430(+) CTTAAC/GAAGTC 2 -- int10--------
    rs789324901,2
    F--142845445(+) TAGAGA/GCCTAT 2 -- int11Minor allele frequency- G:0.02WA 118
    rs737356251,2
    C,F--142845485(+) CTTGTC/TTTTCT 2 -- int13Minor allele frequency- T:0.21WA CSA 122
    rs558260111,2
    C,F--142845507(+) TTGATC/TGGTTT 2 -- int12Minor allele frequency- T:0.09NA EA 240
    rs1824174001,2
    --142845605(+) ATTTAA/GAAGAG 2 -- int10--------
    rs768381381,2
    F--142845638(+) AACAAT/CAGAGC 2 -- int11Minor allele frequency- C:0.01NA 120
    rs1508934251,2
    --142845775(+) CTGCTA/TTTGCT 2 -- int10--------
    rs734759301,2
    C,F--142845839(+) ATGCCA/GTAAGA 2 -- int12Minor allele frequency- G:0.04WA 120
    rs1879219111,2
    --142845919(+) GTAATA/GTAGAT 2 -- int10--------
    rs1929722281,2
    --142845958(+) GGTTGC/TGGGAA 2 -- int10--------
    rs1851693911,2
    --142846031(+) GAAATA/TTCTGT 2 -- int10--------
    rs1177514111,2
    C,F--142846327(+) GTCACG/AGCAGA 2 -- int11Minor allele frequency- A:0.01EA 120
    rs1431318841,2
    --142846358(+) TTGCTC/GTGAGG 2 -- int10--------
    rs1122413031,2
    C,F--142846388(+) TTGCAA/GATCGC 2 -- int12Minor allele frequency- G:0.04CSA WA 119
    rs734759311,2
    C,F--142846391(+) CAAATC/TGCATG 2 -- int12Minor allele frequency- T:0.08WA 120
    rs1888312831,2
    --142846395(+) TCGCAA/TGCCCT 2 -- int10--------
    rs1923742311,2
    --142846494(+) CCCTTC/TACATC 2 -- int10--------
    rs790856381,2
    F--142846503(+) TCCTTC/TACATG 2 -- int11Minor allele frequency- T:0.01EA 120
    rs1849152981,2
    --142846504(+) CCTTCA/GCATGC 2 -- int10--------
    rs1881683121,2
    --142846510(+) CATGCA/GTGCTT 2 -- int10--------
    rs2003066031,2
    C--142846530(+) TTTTTG/TTTTTT 2 -- int10--------
    rs69507891,2
    C--142846533(+) ttTGTT/GTTTTT 2 -- int1 trp32Minor allele frequency- G:0.25NA CSA 4
    rs749978371,2
    --142846546(+) TTTTTG/TTATTT 2 -- int10--------
    rs125337881,2
    C,H--142846548(+) TTTGTA/TTTTTT 2 -- int10--------
    rs2002338571,2
    --142846647(+) GCCTT-/CCTG  
            
    CCTGC
    2 -- int10--------
    rs734759351,2
    C,F--142846744(+) ATTCTT/CTCTCT 2 -- int12Minor allele frequency- C:0.02WA 120
    rs3696088531,2
    C--142846745(+) ATTCT-/TCCTCTC 2 -- int10--------
    rs1466588791,2
    --142846759(+) CTCTCC/TCTTCC 2 -- int10--------
    rs1463716001,2
    C--142846780(+) CCTTC-/CTTT  
            
    CTTTC
    2 -- int10--------
    rs1809227611,2
    --142846828(+) CAAATA/GTTCAG 2 -- int10--------
    rs780350191,2
    --142847008(+) AGTACA/GGAGGG 2 -- int10--------
    rs1440366801,2
    --142847015(+) AGGGAA/CAAATG 2 -- int10--------
    rs1846145891,2
    --142847042(+) GGGCAA/GGGGAG 2 -- int10--------
    rs1449720241,2
    --142847151(+) CTAAAC/TATGCA 2 -- int10--------
    rs734759381,2
    C--142847166(+) AAGGCC/TGAGAC 2 -- int12Minor allele frequency- T:0.10WA 120
    rs1490754011,2
    --142847195(+) TGGAGA/GTTGTA 2 -- int10--------
    rs1431404851,2
    --142847256(+) AAAATA/GAATTC 2 -- int10--------
    rs1894792181,2
    --142847292(+) TACCTA/GTGAGA 2 -- int10--------
    rs734759411,2
    C,F--142847355(+) GCCAAG/AGGTTT 2 -- int12Minor allele frequency- A:0.10WA 120
    rs1815936961,2
    --142847397(+) CAGTAA/GGTGTA 2 -- int10--------
    rs673006641,2
    C--142847425(+) CCATA-/AA    
       G
    /AGA
    GGAGG
    4 -- cds10--------
    rs2006337291,2
    C--142847427(+) CATAGA/GAGGTG 2 -- int10--------
    rs734759431,2
    C,F--142847607(+) CCTAGG/AGGATA 2 -- int15Minor allele frequency- A:0.48WA CSA 125
    rs1867133681,2
    --142847763(+) TCTCTC/TCTGTT 2 -- int10--------
    rs1482656871,2
    --142847903(+) CATCTC/GCTCCC 2 -- int10--------
    rs737356271,2
    --142848013(+) TTGTTG/TTTTTT 2 -- int11Minor allele frequency- T:0.50WA 2
    rs2019405781,2
    C--142848020(-) TCACAA/CAAAAA 2 -- int10--------
    rs1414158891,2
    --142848071(+) CAGTAA/CCTGAT 2 -- int10--------
    rs1470198851,2
    --142848111(+) GCTGCA/GCTATT 2 -- int10--------
    rs1918878521,2
    --142848126(+) TAACAG/TATGTC 2 -- int10--------
    rs1382876691,2
    --142848339(+) ATCTCA/GTGCAT 2 -- int10--------
    rs1140229531,2
    C,F--142848351(+) CTAAGC/TAATAG 2 -- int11Minor allele frequency- T:0.13WA 118
    rs1817938491,2
    --142848414(+) TCCACA/GTCTTC 2 -- int10--------
    rs602456891,2
    C,F--142848584(+) TTTTTT/GTTTGT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1438855691,2
    --142848690(+) AACTGC/GATGAT 2 -- int10--------
    rs734759481,2
    C--142848803(+) GGGAAG/TATAAA 2 -- int12Minor allele frequency- T:0.14WA 120
    rs734759491,2
    C,F--142848831(+) ACACCG/ATAGTG 2 -- int12Minor allele frequency- A:0.04WA 120
    rs1506293911,2
    --142849102(+) ATAATC/TCTGAA 2 -- int10--------
    rs102445281,2
    C,F,A,H--142849121(+) CTCTAT/CGTGGA 2 -- int122Minor allele frequency- C:0.25NS EA NA WA CSA 1876
    rs1863367801,2
    --142849135(+) CACACA/GTGGTT 2 -- int10--------
    rs1910283441,2
    --142849192(+) GATTTC/TATTTA 2 -- int10--------
    rs1388118901,2
    --142849218(+) GCCCAA/GGAAAG 2 -- int10--------
    rs1821372741,2
    --142849320(+) AGACTC/TCTGAG 2 -- int10--------
    rs1493941071,2
    --142849467(+) GTAAAC/TTGGCT 2 -- int10--------
    rs1880585091,2
    --142849566(+) GCATCC/TTAGTC 2 -- int10--------
    rs102480661,2
    C,F--142849609(+) TTATGT/CGTTTT 2 -- int14Minor allele frequency- C:0.34WA NA CSA 124
    rs1447965101,2
    --142849758(+) AATTTA/CTTTTG 2 -- int10--------
    rs1162697851,2
    C,F--142849774(+) TGGCAA/GTATCT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1485664561,2
    --142849928(+) ATGTTG/TAAATA 2 -- ut510--------
    rs1911564691,2
    --142849990(+) TGGGCC/TCTATT 2 -- int10--------
    rs102554491,2
    C,F,H--142850014(+) TCATTA/TCAAAC 2 -- int122Minor allele frequency- T:0.22NA NS EA WA CSA 1886
    rs1158399021,2
    C,F--142850036(+) AAGTCC/TTGTGT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs734759521,2
    C--142850146(+) GGCAAC/TGACTG 2 -- int12Minor allele frequency- T:0.08WA 120
    rs1833135641,2
    --142850153(+) ACTGGA/GATGGC 2 -- int10--------
    rs1881774481,2
    --142850289(+) CCTTAC/TCTGGT 2 -- int10--------
    rs1461653691,2
    --142850466(+) GATACA/CATTTT 2 -- int10--------
    rs734759551,2
    C,F--142850556(+) ATAGTG/AATGAA 2 -- int12Minor allele frequency- A:0.14WA 120
    rs1390905741,2
    --142850576(+) CAGTTC/TAAGAA 2 -- int10--------
    rs102522081,2
    C,F,A,H--142850669(+) ggttgT/Gtagcc 2 -- int119Minor allele frequency- G:0.23NS EA NA WA CSA 1742
    rs760799071,2
    C,F--142850714(+) ATAAAC/TGTGCC 2 -- int12Minor allele frequency- T:0.09WA 120
    rs1439899001,2
    --142850727(+) TTTTCC/TCCCTA 2 -- int10--------
    rs1922358491,2
    --142850795(+) CAGGAC/TAAGAA 2 -- int10--------
    rs1509489051,2
    --142850969(+) AGTGTC/GTAGAA 2 -- int10--------
    rs1407890251,2
    --142850996(+) CTTGTG/TGCTCA 2 -- int10--------
    rs1832607621,2
    --142851013(+) ACTTGC/TTACAT 2 -- int10--------
    rs1497004261,2
    --142851232(+) GGAGAA/GGAGGA 2 -- int10--------
    rs102338331,2
    C,F,A,H--142851297(+) TAGGGT/ATGGCC 2 -- int19Minor allele frequency- A:0.24NS EA WA CSA 546
    rs1878238721,2
    --142851305(+) GCCTGC/TCCCAG 2 -- int10--------
    rs1455575211,2
    --142851320(+) GGGCCA/GGGTGT 2 -- int10--------
    rs1926016421,2
    --142851342(+) TAATAC/TAAAAT 2 -- int10--------
    rs789911851,2
    C,F--142851366(+) TAGATC/TGGGCC 2 -- int12Minor allele frequency- T:0.13WA 120
    rs47267151,2
    C,F,A,H--142851517(+) TGAGTG/TTAAGT 2 -- int1110Minor allele frequency- T:0.13NS NA EA PA EU CA WA CSA 6875
    rs2010364211,2
    --142851531(+) ACCTT-/AATAAA 2 -- int10--------
    rs22701631,2
    C,F,A,H--142851562(-) AGAAAA/GGGTTA 2 -- int1 trp3113Minor allele frequency- N:0.00NS EA NA PA EU CA WA CSA 7279
    rs1413791611,2
    --142851565(+) CCCTTC/TCTCCA 2 -- int10--------
    rs734759581,2
    C,F--142851593(+) CCCACC/AAGTCT 2 -- int12Minor allele frequency- A:0.13WA 120
    rs1843318971,2
    --142851654(+) CACCCA/CCACTA 2 -- int10--------
    rs746167091,2
    F--142851677(+) CACTTT/CTTGCC 2 -- int11Minor allele frequency- C:0.06EA 120
    rs1896179241,2
    --142851683(+) TTGCCC/TTTTTT 2 -- int10--------
    rs1925548091,2
    --142851697(+) ATAATA/TTGAGA 2 -- int10--------
    rs1849739071,2
    --142851726(+) TACATA/TTAATA 2 -- int10--------
    rs1382992251,2
    C--142851738(+) TTTAA-/TCTCTCT 2 -- int10--------
    rs717103441,2
    C--142851739(+) TTAAT-/TC    
       
    /TCTC
    CTCTC
    2 -- int10--------
    rs602582091,2
    C,F--142852085(+) TTTTTA/CTTAGT 2 -- int12Minor allele frequency- C:0.21CSA WA 120
    rs1888062621,2
    --142852185(+) GAGCTA/GGAGTC 2 -- int10--------
    rs1126076961,2
    C,F--142852274(+) TGCCTC/TAGCCT 2 -- int11Minor allele frequency- T:0.50WA 2
    rs1814906391,2
    --142852415(+) GGCCTC/TCCAAA 2 -- int10--------
    rs1131229181,2