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

HPRT1 Gene

protein-coding   GIFtS: 69
GCID: GC0XP133594

hypoxanthine phosphoribosyltransferase 1


(Previous symbol: HPRT)
 Explore 107 diseases affiliated with
HPRT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HPRT1    

Aliases
for HPRT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hypoxanthine Phosphoribosyltransferase 11 2
HPRT1 2 3 5
HGPRT1 2 3
HGPRTase2 3
EC 2.4.2.83 8
Hypoxanthine-Guanine Phosphoribosyltransferase2

External Ids:    HGNC: 51571   Entrez Gene: 32512   Ensembl: ENSG000001657047   OMIM: 3080005   UniProtKB: P004923   

Export aliases for HPRT1 gene to outside databases

Previous GC identifers: GC0XP128239 GC0XP130440 GC0XP131539 GC0XP132299 GC0XP133319 GC0XP133421 GC0XP122992


Summaries
for HPRT1 gene

(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 HPRT1:
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate
and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl
1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage
pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.(provided by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the
5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of
purine nucleotides through the purine salvage pathway

Gene Wiki entry for HPRT1 (Hypoxanthine-guanine phosphoribosyltransferase)


Genomic Views
for HPRT1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HPRT1 gene promoter:
         p53   Nkx2-2   POU6F1 (c2)   AP-2gamma   NF-kappaB   FOXL1   POU2F1   NF-kappaB2   POU2F1a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HPRT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HPRT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPRT1


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

Entrez Gene cytogenetic band: Xq26.1   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26.2

HPRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPRT1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP133594:  view genomic region     (about GC identifiers)

Start:
 133,594,175 bp from pter      End:
 133,654,543 bp from pter
Size:
 60,369 bases      Orientation:
 plus strand

Proteins
for HPRT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492 (See protein sequence)
Recommended Name: Hypoxanthine-guanine phosphoribosyltransferase  
Size: 218 amino acids; 24579 Da
Cofactor: Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few
direct interactions with the protein
Subunit: Homotetramer
Subcellular location: Cytoplasm
6/8 PDB 3D structures from and Proteopedia for HPRT1 (see all 8):
1BZY (3D)        1D6N (3D)        1HMP (3D)        1Z7G (3D)        2VFA (3D)        3GEP (3D)    
Secondary accessions: A6NHF0 B2R8M9

Explore the universe of human proteins at neXtProt for HPRT1: NX_P00492

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00492

    • 4/11 DME Specific Peptides for HPRT1 (P00492) (see all 11)
     VLIVEDI  LIVEDIID  CVISETGK  VEDIIDTG 

    HPRT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000185.1  
    ENSEMBL proteins: 
     ENSP00000298556  
    Reactome Protein details: P00492
    Human Recombinant Protein Products: 
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    Novus Biologicals HPRT1 Proteins
    Novus Biologicals HPRT1 Lysates
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    ProSpec Recombinant Protein for HPRT1
    Uscn Proteins for HPRT1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    HPRT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HPRT1

    Protein Domains /
    Families
    for HPRT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HPRT1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR005904 Hxn_phspho_trans
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry P00492

    ProtoNet protein and cluster: P00492

    1 Blocks protein family: IPB002375 Purine/pyrimidine phosphoribosyl transferase

    UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
    Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family


    Function
    for HPRT1 gene

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

         UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
    Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the
    5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of
    purine nucleotides through the purine salvage pathway
    Catalytic activity: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate
    Catalytic activity: GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate
    Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for IMP; KM=0.45 uM for hypoxanthine; KM=25 uM for
    pyrophosphate; KM=31 uM for phosphoribosylpyrophosphate;

         Genatlas biochemistry entry for HPRT1:
    hypoxanthine phosphoribosyltransferase,purine salvage pathway

    Enzyme Number (IUBMB): EC 2.4.2.81 2

    miRNA
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    hsa-miR-301b hsa-miR-301a hsa-miR-3666 hsa-miR-19b hsa-miR-4295 hsa-miR-454 hsa-miR-130a hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmid: HPRT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HPRT1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1 (see all 2)
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000287magnesium ion binding IDA10360366
    GO:0004422hypoxanthine phosphoribosyltransferase activity IDA19527031
    GO:0005515protein binding IPI19060904
    GO:0042802identical protein binding ----


    HPRT1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Hprttm1.1Pobe for HPRT1
         15/25 MGI mutant phenotypes (inferred from 121 alleles) (MGI details for Hprt) (see all 25):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    HPRT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HPRT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    		Purine metabolism1.00
    		Purine salvage0.39
    		Metabolism of nucleotides0.42
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3adenine and adenosine salvage III
    		adenine and adenosine salvage III1.00
    		guanine and guanosine salvage I0.50
    4ATP/ITP metabolism
    		ATP/ITP metabolism1.00
    		ATP/ITP metabolism0.98
    5Nucleotide Metabolism
    		Nucleotide Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for HPRT1
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for HPRT1
        ATP/ITP metabolism

    3 BioSystems Pathways for HPRT1 
        adenine and adenosine salvage III
    Nucleotide Metabolism
    guanine and guanosine salvage I

    4        Reactome Pathways for HPRT1
        Metabolism of nucleotides
    Metabolism
    Purine salvage
    Purine metabolism

    1 PharmGKB Pathway for HPRT1
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3         Kegg Pathways  (Kegg details for HPRT1):
        Purine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1


    HPRT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HPRT1

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

    5/97 Interacting proteins for HPRT1 (P004921, 2, 3 ENSP000002985564) via UniProtKB, MINT, STRING, and/or I2D (see all 97)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDYHV1Q96HA81, 2, 3, ENSP000002873874EBI-748210,EBI-741158 MINT-67224 I2D: score=5 STRING: ENSP00000287387
    PRTFDC1Q9NRG12, 3, ENSP000003186024MINT-68331 I2D: score=5 STRING: ENSP00000318602
    HUS1O609213, ENSP000002587744I2D: score=2 STRING: ENSP00000258774
    FANCAO153603, ENSP000003739524I2D: score=1 STRING: ENSP00000373952
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001975response to amphetamine IEA--
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process IMP9824441
    GO:0006166purine ribonucleoside salvage IMP9824441
    GO:0006168adenine salvage IBA--


    HPRT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HPRT1 gene

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

    HPRT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HPRT1

    10/12 HMDB Compounds for HPRT1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    GuanineGUN (see all 26)73-40-5--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Hypoxanthine1,7-Dihydro-6H-purin-6-one (see all 20)68-94-0--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    8 DrugBank Compounds for HPRT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Thioguanine2-Amino 6MP (see all 14)154-42-7enzymesubstrate14529546 11545274 15136753 11756148 1383700
    3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol-- --target--17139284 17016423 10592235
    5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine-- --target--17139284 17016423 10592235
    9-Deazaguanine-- --target--17139284 17016423 10592235
    Alpha-Phosphoribosylpyrophosphoric Acid-- 13270-65-0target--17139284 17016423 10592235
    Pyrophosphate 2--- --target--17139284 17016423 10592235
    AzathioprineAzathioprin (see all 4)446-86-6targetinhibitor18020555 15354273
    Mercaptopurine6 MP (see all 5)50-44-2targetinhibitor15354273

    10/126 Novoseek chemical compound relationships for HPRT1 gene (see all 126)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoxanthine 93.4 273 17129743 (3), 2397107 (2), 8824508 (2), 10657589 (2) (see all 99)
    6 thioguanine 91.5 152 9262380 (5), 7681532 (4), 9855005 (3), 17066413 (3) (see all 84)
    purine 83.3 130 1311306 (3), 12429535 (2), 10850548 (2), 9824441 (2) (see all 88)
    prpp 80.6 48 1311306 (4), 10657589 (3), 18536021 (2), 15819884 (2) (see all 19)
    actb 78.1 24 16777070 (3), 15720708 (3), 18191039 (2), 17257226 (2) (see all 15)
    guanine 74.6 71 1850982 (2), 8589681 (2), 8962428 (2), 10576552 (2) (see all 52)
    1,3-butadiene 74.5 57 11397407 (5), 11397400 (4), 15036120 (4), 18288319 (3) (see all 22)
    1-nitrosopyrene 73 5 9202750 (1), 8033153 (1), 7592980 (1), 8668188 (1)
    butadiene monoxide 72.5 9 8070866 (2), 8149485 (2), 9379915 (1), 9463556 (1) (see all 5)
    bpde 71.8 41 1381465 (4), 2120584 (3), 2122466 (3), 9202750 (2) (see all 16)

    1 PharmGKB related drug/compound annotation for HPRT1 gene
    Drug/compound PharmGKB Annotation
    mycophenolic acidDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about HPRT1 / HPRT 

    Transcripts
    for HPRT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for HPRT1 gene: 
    NM_000194.2  

    Unigene Cluster for HPRT1:

    Hypoxanthine phosphoribosyltransferase 1
    Hs.412707  [show with all ESTs]
    Unigene Representative Sequence: NM_000194
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298556(uc004exl.4) ENST00000462974 ENST00000475720

    miRNA
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    hsa-miR-301b hsa-miR-301a hsa-miR-3666 hsa-miR-19b hsa-miR-4295 hsa-miR-454 hsa-miR-130a hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmid: HPRT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK313435.1 BC000578.2 BT019350.1 CR407645.1 L29382.1 L29383.1 M24772.1 M31642.1 
    U31737.1 

    7 DOTS entries:

    DT.315146  DT.101982197  DT.95182310  DT.121305200  DT.92441189  DT.100800735  DT.99955125 

    24/275 AceView cDNA sequences (see all 275):

    BF725707 BM968309 AV713164 CB158613 BE218846 CA419764 CA418043 BQ774854 
    BM665410 AA320916 N47311 BM315030 BQ772821 AV648680 BE548220 BX281515 
    CR614617 AI990397 AI246714 BM712509 H06322 AW949523 T28613 BG216143 

    GeneLoc Exon Structure


    Expression
    for HPRT1 gene

    (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

    HPRT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATCTTCTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See HPRT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HPRT1

    SOURCE GeneReport for Unigene cluster: Hs.412707
        SABiosciences Expression via Pathway-Focused PCR Arrays including HPRT1 (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPRT1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HPRT1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPRT1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPRT1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1

    Orthologs
    for HPRT1 gene

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

    Orthologs for HPRT1 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HPRT11 hypoxanthine phosphoribosyltransferase 1 81.04(n)
    90.83(a)    		   395653  NM_204848.1  NP_990179.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HPRT16
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343761.1(177239-186016)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia MGC762232 hypothetical protein MGC76223 79.79(n)    BC064242.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.16682 Danio rerio cDNA clone MGC56221 IMAGE5600947, complete more 78.57(n)    BC046003.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y105E8B.53
    CELE_Y105E8B.51    		 Protein Y105E8B.51 48(a)3
    51.89(n)1
    49.06(a)1    		   I(14665437-14669289)3
    1733231  NM_061144.41  NP_493545.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons HGPT6
    		 hypoxanthine phosphoribosyltransferase
    		 31(a)
    		 possible ortholog
    		 1(26987775-26989199)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 phosphoribosyl transferase, putative, expressed
    		 21(a)
    		 possible ortholog
    		 5(4947656-4951852)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria hpt6
    		 hypoxanthine phosphoribosyltransferase
    		 33(a)
    		 possible ortholog
    		 Chromosome(141431-141967)


    ENSEMBL Gene Tree for HPRT1 (if available)
    TreeFam Gene Tree for HPRT1 (if available) 

    Paralogs
    for HPRT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HPRT1 gene
    PRTFDC12  
    1 SIMAP similar gene for HPRT1 using alignment to 2 protein entries:     HPRT_HUMAN (see all proteins):
    PRTFDC1

    HPRT1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HPRT1
    PGOHUM00000242429 PGOHUM00000245472 PGOHUM00000235542


    Genomic Variants
    for HPRT1 gene

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

    570/571 NCBI SNPs in HPRT1 are shown (see all 571)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378524941,2
    		Cpathogenic133609227(+) TTGCTC/G/TGAGAT 3 R G * mis1 stg10--------
    rs1870298511,2
    		--133592263(+) GCAAAA/GTTATT 1 -- us2k10--------
    rs590978361,2
    		C,--133592277(+) GAACAC/TGTAAC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1918739511,2
    		--133592431(+) TGCCCA/GAAGTC 1 -- us2k10--------
    rs178823581,2
    		F--133592464(+) CCCAGG/TATTTG 1 -- us2k11Minor allele frequency- T:0.01NS 176
    rs1841661671,2
    		--133592502(+) TTTCCA/CTTACA 1 -- us2k10--------
    rs178847751,2
    		C,F,--133592565(+) GGACTT/GCACAA 1 -- us2k18Minor allele frequency- G:0.03NS WA 842
    rs1867292081,2
    		--133592693(+) CAGTAA/GTTATT 1 -- us2k10--------
    rs1996069531,2
    		--133592924(+) CAGGT-/TTATTATT 1 -- us2k10--------
    rs596536531,2
    		C,--133592967(+) AGAGAA/TGCTCA 1 -- us2k10--------
    rs587717051,2
    		C,--133592983(+) TTGCC-/TAGTTT 1 -- us2k10--------
    rs1900027771,2
    		--133593040(+) GGAGGC/TCACCA 1 -- us2k10--------
    rs178791101,2
    		C,F,H,--133593086(+) ATAGGG/ATTGAG 1 -- us2k17Minor allele frequency- A:0.03NS NA WA 968
    rs178788831,2
    		C,F,--133593126(+) TGTTGC/ATTGCT 1 -- us2k12Minor allele frequency- A:0.03NS WA 174
    rs178785821,2
    		F--133593144(+) CCTATC/TTGAGA 1 -- us2k11Minor allele frequency- T:0.01NS 174
    rs1826684111,2
    		--133593261(+) TACTGA/TCCTAA 1 -- us2k10--------
    rs1869901051,2
    		--133593283(+) TATACA/TTACAC 1 -- us2k10--------
    rs1918053191,2
    		--133593300(+) ATACCG/TATACT 1 -- us2k10--------
    rs1850236621,2
    		--133593463(+) GACCTC/TCGCCT 1 -- us2k10--------
    rs59780071,2
    		C,H,--133593711(+) TAGAGG/CCTCAG 1 -- us2k13Minor allele frequency- C:0.00EA NS 252
    rs178810111,2
    		C,F--133593909(+) CAAGGA/GTTCAC 1 -- us2k12Minor allele frequency- G:0.01NS NA 164
    rs66349901,2
    		C,F,A,H,--133594021(+) TGAGTG/TGGGAG 1 -- us2k114Minor allele frequency- T:0.42NS EA NA CSA 1981
    rs1887398171,2
    		--133594137(+) GGGCCA/GGGGGC 1 -- us2k10--------
    rs73578831,2
    		C--133594163(+) tggcgG/Tggcgg 1 -- us2k10--------
    rs1930545581,2
    		--133594186(+) GCCTGC/GTTCTC 1 -- ut510--------
    rs1858572371,2
    		--133594835(+) GTGGGA/GACCAG 1 -- int10--------
    rs1881493501,2
    		--133595091(+) CCGTAA/GTCAGC 1 -- int10--------
    rs178827061,2
    		C,F,--133595122(+) CCTCAC/TTGGTT 1 -- int18Minor allele frequency- T:0.02NS WA 832
    rs178851171,2
    		C,F,--133595264(+) TTTTGG/ACAATG 1 -- int11Minor allele frequency- A:0.03NS 162
    rs178846711,2
    		F--133595525(+) CTATTT/CACTAG 1 -- int11Minor allele frequency- C:0.01NS 170
    rs1911112401,2
    		--133595538(+) GTGTGG/TCTGTG 1 -- int10--------
    rs1836586401,2
    		--133595581(+) ATTTTA/GTGTAT 1 -- int10--------
    rs1451752191,2
    		--133595862(+) CTAGCG/TCTCTC 1 -- int10--------
    rs1884136421,2
    		--133596045(+) ACCTAA/GGATGG 1 -- int10--------
    rs1468685911,2
    		--133596047(+) CTAGGA/TTGGAG 1 -- int10--------
    rs1814794521,2
    		--133596052(+) ATGGAG/TTGCAG 1 -- int10--------
    rs178798831,2
    		C,F,--133596196(+) TTGTAC/TTTTAT 1 -- int12Minor allele frequency- T:0.03NS WA 174
    rs1866712571,2
    		--133596207(+) TTTATG/TTATTT 1 -- int10--------
    rs178796551,2
    		F--133596216(+) TTATTT/CATTTA 1 -- int11Minor allele frequency- C:0.01NS 170
    rs178793891,2
    		C,F,--133596232(+) TGAGAT/CGGAGT 1 -- int12Minor allele frequency- C:0.03NS WA 170
    rs178864041,2
    		C,F,--133596263(+) TGGAGT/CACAGT 1 -- int11Minor allele frequency- C:0.02NS 172
    rs178854811,2
    		C,F,--133596332(+) CATCCC/TCCTGA 1 -- int12Minor allele frequency- T:0.03NS WA 174
    rs178825771,2
    		C,F,--133596510(+) CCCGGC/TCTAAT 1 -- int11Minor allele frequency- T:0.07NS 162
    rs1903788921,2
    		--133596745(+) TGAACA/GTAAGA 1 -- int10--------
    rs66382401,2
    		C,F,A,H,--133596800(+) ATTTCT/CTTCCC 1 -- int1 trp315Minor allele frequency- C:0.20NS EA NA WA 2158
    rs1820582351,2
    		--133596827(+) TTAGCA/CATAAC 1 -- int10--------
    rs1865843531,2
    		--133596948(+) ACCCAA/GCAATA 1 -- int10--------
    rs178820591,2
    		C,F,--133597022(+) TAGTAG/ATGACA 1 -- int12Minor allele frequency- A:0.03NS WA 180
    rs1472265921,2
    		--133597051(+) ATACTA/TAACTA 1 -- int10--------
    rs1910490041,2
    		--133597075(+) GAAGTA/GAATAT 1 -- int10--------
    rs178791261,2
    		C,F,--133597220(+) CTCAAA/GTGTGT 1 -- int12Minor allele frequency- G:0.03NS WA 178
    rs170006191,2
    		C,F,H,--133597240(+) CCCATA/GCTGCT 1 -- int114Minor allele frequency- G:0.97NA NS EA 1504
    rs1821207171,2
    		--133597356(+) ATAATA/GTCTTC 1 -- int10--------
    rs178785891,2
    		C,F,H,--133597370(+) ATTTCG/AGGGAT 1 -- int16Minor allele frequency- A:0.03NS NA 954
    rs178783411,2
    		F--133597499(+) GTAGAT/CTGACA 1 -- int11Minor allele frequency- C:0.01NS 180
    rs1484956401,2
    		--133597593(+) TTTAGC/TACTGT 1 -- int10--------
    rs178859811,2
    		C,F,--133597764(+) TTACTC/TCCTTG 1 -- int11Minor allele frequency- T:0.01NS 180
    rs1428752861,2
    		--133597858(+) TGTCAA/GTCACC 1 -- int10--------
    rs1510535861,2
    		--133597970(+) AGTTCA/GATCAC 1 -- int10--------
    rs178824081,2
    		C,F--133598040(+) TTTTTT/-GTCCA 1 -- int1 trp32Minor allele frequency- -:0.03NS NA 182
    rs1910579001,2
    		--133598055(+) GTCCAC/GAGTGA 1 -- int10--------
    rs1833750891,2
    		--133598117(+) TGGGTA/TAATTC 1 -- int10--------
    rs66542811,2
    		F,H--133598224(+) TTCTTC/GTAACA 1 -- int12Minor allele frequency- G:0.04EA NS 150
    rs1883488071,2
    		--133598397(+) ACACAA/GATTAT 1 -- int10--------
    rs1932027521,2
    		--133598590(+) CACATA/GGCTCA 1 -- int10--------
    rs2018201211,2
    		--133598618(+) GTTTG-/TTTTTT 1 -- int10--------
    rs178848971,2
    		C,F,--133598716(+) GATTCT/CCCTGC 1 -- int11Minor allele frequency- C:0.02NS 180
    rs178798891,2
    		C,F,--133598867(+) GCTGGG/TATTAC 1 -- int12Minor allele frequency- T:0.03NS WA 172
    rs178795871,2
    		C,F,--133598889(+) ACTACG/ACCTGG 1 -- int11Minor allele frequency- A:0.03NS 168
    rs1829051041,2
    		--133598947(+) CCCACA/GAACAT 1 -- int10--------
    rs126871751,2
    		C,F,H,--133599164(+) CAGGCC/AAGGGG 1 -- int15Minor allele frequency- A:0.19NS EA NA 364
    rs1925655651,2
    		--133599169(+) CAGGGA/GTGATC 1 -- int10--------
    rs1835255201,2
    		--133599564(+) TAATCA/GATTAT 1 -- int10--------
    rs1882692201,2
    		--133599568(+) CGATTA/GTAGCA 1 -- int10--------
    rs66382411,2
    		C,F,H,--133599629(+) CAATAC/TTCTTT 1 -- int115Minor allele frequency- T:0.18NS EA NA 2134
    rs178810341,2
    		C,F,H,--133599732(+) GAGATG/TCAGTC 1 -- int19Minor allele frequency- T:0.01NS NA 1196
    rs1850414331,2
    		--133599849(+) AGATCC/TGGAGA 1 -- int10--------
    rs1504710731,2
    		--133599884(+) CACTTC/GTAGGC 1 -- int10--------
    rs1488152811,2
    		--133599991(+) TGCTTA/GTTATG 1 -- int10--------
    rs178827601,2
    		C,F,--133600020(+) TCCCAC/TACCCC 1 -- int11Minor allele frequency- T:0.02NS 156
    rs1435100931,2
    		C,--133600171(+) CAGGAC/TGGGCG 1 -- int10--------
    rs1379911091,2
    		--133600218(+) GCCAAC/GGTGGG 1 -- int10--------
    rs1816113381,2
    		--133600373(+) AACCCA/GGGAGT 1 -- int10--------
    rs1861281051,2
    		--133600550(+) GAGATG/TGAAAC 1 -- int10--------
    rs1422042951,2
    		--133600686(+) AAGGTA/GTTGAT 1 -- int10--------
    rs1893209671,2
    		--133600788(+) TTACAC/TGGCTG 1 -- int10--------
    rs1459340591,2
    		C,--133600830(+) CCTTTA/GCTCAG 1 -- int10--------
    rs173246641,2
    		C,F,H,--133600986(+) TTGTCA/GAATTA 1 -- int122Minor allele frequency- G:0.85NA NS EA 2930
    rs1819782181,2
    		--133601271(+) AGACAA/GGGTTT 1 -- int10--------
    rs1852203021,2
    		--133601456(+) CTTAAG/TCAAGG 1 -- int10--------
    rs1413510041,2
    		--133601591(+) GATGGA/GACAAG 1 -- int10--------
    rs1911542211,2
    		--133601813(+) AACTAC/TCATAA 1 -- int10--------
    rs1154019531,2
    		C,--133602075(+) GACCTC/TGAGCG 1 -- int10--------
    rs1863215831,2
    		--133602134(+) ACAGCA/GCCCAG 1 -- int10--------
    rs735573081,2
    		C,--133602218(+) TGTAAG/ATTCTG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs178790621,2
    		C,F,--133602252(+) TCTCTCT/-AGTAT 1 -- int11Minor allele frequency- -:0.12NS 172
    rs1912308791,2
    		--133602258(+) TCTCTC/GTAGTA 1 -- int10--------
    rs1827732381,2
    		--133602646(+) CGGGCA/GTGGTG 1 -- int10--------
    rs123809581,2
    		C,H--133602905(+) TGCCTC/GTTATT 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs178788431,2
    		C,F,--133602956(+) AAATTA/-TTTTT 1 -- int11Minor allele frequency- -:0.02NS 172
    rs178785471,2
    		C,--133603079(+) CACCTC/TGCCCG 1 -- int11Minor allele frequency- T:0.01NS 174
    rs178783661,2
    		C,F,--133603112(+) GAACAA/TCTACA 1 -- int12Minor allele frequency- T:0.02NS WA 176
    rs178810031,2
    		C,--133603137(+) AATGAA/GCCTGC 1 -- int11Minor allele frequency- G:0.01NS 174
    rs1874513261,2
    		--133603235(+) TATATA/GTATGT 1 -- int10--------
    rs1998712621,2
    		--133603244(+) TGTGC-/ATATATA 1 -- int10--------
    rs178826551,2
    		F--133603253(+) ATATA-/TAGTAAG 1 -- int11Minor allele frequency- TA:0.02NS 174
    rs178851011,2
    		C--133603348(+) TTGTAT/CTGACA 1 -- int13Minor allele frequency- C:0.01NS NA 176
    rs1400676421,2
    		--133603595(+) CAAGAC/GTTTTC 1 -- int10--------
    rs178821481,2
    		C,F,--133603700(+) GCTGGA/GTCCTA 1 -- int110Minor allele frequency- G:0.65NS NA WA 840
    rs1463663091,2
    		--133603812(+) AGCACC/TACAAA 1 -- int10--------
    rs1924101761,2
    		--133603854(+) CAGATA/GTATTC 1 -- int10--------
    rs1834095601,2
    		--133603922(+) TATTTC/TCCTAG 1 -- int10--------
    rs1875712471,2
    		--133604017(+) ACAAAC/TGTCCC 1 -- int10--------
    rs1928053971,2
    		--133604044(+) TAGTAA/TATATG 1 -- int10--------
    rs66382421,2
    		C,H--133604073(+) TAGCAG/AATGCA 1 -- int16Minor allele frequency- A:0.00NS EA NA 422
    rs1843583661,2
    		--133604250(+) TCCACC/TTACCT 1 -- int10--------
    rs1396581071,2
    		C,--133604321(+) ATTACA/GGGCCA 1 -- int10--------
    rs1429841851,2
    		--133604335(+) TGACAA/GTACAT 1 -- int10--------
    rs1511093961,2
    		--133604435(+) AAAATA/GTAACT 1 -- int10--------
    rs1880981491,2
    		--133604597(+) TTTGAC/TCAATA 1 -- int10--------
    rs674551051,2
    		C,--133604945(+) AAAAA-/GAGAGA 1 -- int10--------
    rs800398561,2
    		C,--133604945(+) AAAAAA/GAGAGA 1 -- int12Minor allele frequency- G:0.00WA NA 4
    rs178798481,2
    		C,--133605099(+) CTGATT/ATTTTG 1 -- int11Minor allele frequency- A:0.01NS 178
    rs178796101,2
    		C,--133605117(+) ATTTTG/CCTTTA 1 -- int11Minor allele frequency- C:0.01NS 178
    rs1818730171,2
    		--133605295(+) TTGCTC/GTAACT 1 -- int10--------
    rs1850671141,2
    		--133605296(+) TGCTGC/TAACTC 1 -- int10--------
    rs1401233771,2
    		--133605427(+) GTTATG/TAAATA 1 -- int10--------
    rs1904069571,2
    		--133605649(+) GGTAGC/TGGGGA 1 -- int10--------
    rs66349921,2
    		C,F,A,--133605817(+) AGGCGC/GGTGCC 1 -- int13Minor allele frequency- G:0.10NA NS 152
    rs178829541,2
    		C,F,--133605924(+) TGGGCC/TTCCCA 1 -- int12Minor allele frequency- T:0.03NS WA 160
    rs2016960191,2
    		--133605984(+) TGTGG-/TTTTTT 1 -- int10--------
    rs178785191,2
    		C,F--133605985(+) GTGGT-/TTTTTT 1 -- int11Minor allele frequency- T:0.14NS 178
    rs1420607791,2
    		--133606045(+) TCCACA/GCTGGA 1 -- int10--------
    rs178857451,2
    		F--133606179(+) CAAAGT/CTTTTT 1 -- int11Minor allele frequency- C:0.01NS 180
    rs1807218181,2
    		--133606588(+) CATGGC/TTTTTT 1 -- int10--------
    rs1860296411,2
    		--133606618(+) AAAGAC/TGAAAT 1 -- int10--------
    rs1913137011,2
    		--133606635(+) CTTGTC/TCCCCA 1 -- int10--------
    rs22837741,2
    		C,F,--133606700(+) CAAGCG/AATTCT 1 -- int13Minor allele frequency- A:0.35NS NA 168
    rs1812918331,2
    		--133606796(+) GGGGAA/GGTTTC 1 -- int10--------
    rs1858107961,2
    		--133606885(+) CAGGCA/GTGAGC 1 -- int10--------
    rs178853511,2
    		C,F,--133606896(+) CACCGC/TGCCCA 1 -- int12Minor allele frequency- T:0.03NS WA 174
    rs1906654891,2
    		--133606946(+) AGAGTC/TTTGCT 1 -- int10--------
    rs59334141,2
    		C,--133607120(+) tcaccA/G/Ttgttg 1 -- int12NA 4
    rs754357081,2
    		C--133607133(-) AGACCA/GTCCTG 1 -- int12Minor allele frequency- G:0.00NA 4
    rs32166141,2
    		C--133607155(+) AGGTG-/GATCCA 1 -- int10--------
    rs59334151,2
    		--133607181(+) tcccaA/Gagtgc 1 -- int10--------
    rs1888663101,2
    		--133607212(+) AACCCA/GCCCGG 1 -- int10--------
    rs178823871,2
    		C,F,H--133607570(+) GAGTAC/TTTGCT 1 -- int14Minor allele frequency- T:0.01NS NA 354
    rs1919931271,2
    		--133607846(+) TCTAGC/GTTGAA 1 -- int10--------
    rs1436136171,2
    		--133607985(+) AACTAC/TGGAGG 1 -- int10--------
    rs1826706271,2
    		--133608060(+) GGCTAC/TGCATG 1 -- int10--------
    rs1876608961,2
    		--133608111(+) ACGTAC/TGAGTA 1 -- int10--------
    rs1480541571,2
    		--133608325(+) AGTGGA/CATTTC 1 -- int10--------
    rs59038771,2
    		C--133608451(+) TTTTT-/TGAGAC 1 -- int10--------
    rs1124495161,2
    		C,--133608552(+) TCAAGT/CGATCC 1 -- int11Minor allele frequency- C:0.00NA 1
    rs178837191,2
    		C,F,--133608639(+) AACAGG/AGTTCG 1 -- int11Minor allele frequency- A:0.02NS 172
    rs1164931,2
    		H--133608736(+) ATCCAA/GGAAAT 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs598542701,2
    		C,--133608815(+) AAATTG/ATGATA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs3742901,2
    		H--133608889(+) ATGTGT/ATACGT 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs1174071,2
    		C,H,--133609110(+) TCACTA/GTATTG 1 -- int110Minor allele frequency- G:0.00WA NA CSA 16
    rs1453585701,2
    		F--133609259(+) CATCAC/TATTGT 2 H syn11Minor allele frequency- T:0.00NA 4546
    rs1420534391,2
    		--133609672(+) ACATAC/GTGGTG 1 -- int10--------
    rs735573161,2
    		C,--133609782(+) AGCACT/ATGGAG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs20708881,2
    		C,F,H,--133609798(+) GAGTAT/CTGGCG 1 -- int128Minor allele frequency- C:0.05NS EA NA 3168
    rs1999477051,2
    		--133609815(+) GAAAT-/CCCCCC 1 -- int10--------
    rs178795791,2
    		F--133609816(+) CCCCC-/CTTTTT 1 -- int1 trp31Minor allele frequency- C:0.02NS 174
    rs178793381,2
    		C,F--133609821(+) TTTTT-/TAACAC 1 -- int12Minor allele frequency- T:0.03NS NA 172
    rs1842885241,2
    		--133609861(+) GTATAC/GTCAAG 1 -- int10--------
    rs178827241,2
    		C,F,--133609985(+) AGTGAA/GTTTCA 1 -- int11Minor allele frequency- G:0.01NS 178
    rs1874837721,2
    		--133610129(+) AGAACA/GAATGT 1 -- int10--------
    rs173246711,2
    		C,F,H,--133610309(+) CATCAA/GTCCTG 1 -- int111Minor allele frequency- G:0.25NA NS EA WA 744
    rs1919757251,2
    		--133610318(+) TGTAGG/TTGATT 1 -- int10--------
    rs66382431,2
    		C,F,H,--133610346(+) TTATTA/GTAGAC 1 -- int117Minor allele frequency- N:0.00NS EA NA 1468
    rs1852174991,2
    		--133610463(+) TTTAAA/GCACAA 1 -- int10--------
    rs178829741,2
    		F--133610521(+) TTGAT-/TGAT  
                GGTTT     		1 -- int11Minor allele frequency- TGAT:0.01NS 172
    rs178790541,2
    		F--133610858(+) TTTCTA/GCTTTT 1 -- int11Minor allele frequency- G:0.01NS 176
    rs1905072121,2
    		--133611183(+) CCTCCC/TGGGTT 1 -- int10--------
    rs1822183101,2
    		--133611407(+) TTTTTA/TAAAAA 1 -- int10--------
    rs1843751001,2
    		--133611552(+) TGATAA/GTATCT 1 -- int10--------
    rs123839091,2
    		A--133611640(+) gttcgA/Ggacca 1 -- int10--------
    rs178801731,2
    		C,F,--133611730(+) ACAAGG/ATCTCA 1 -- int11Minor allele frequency- A:0.02NS 180
    rs1811680781,2
    		--133611738(+) TCATTC/GTGTCA 1 -- int10--------
    rs1856626391,2
    		--133611769(+) CAAGAG/TCACAG 1 -- int10--------
    rs1901117101,2
    		--133611807(+) CAAGTA/GATTCT 1 -- int10--------
    rs2009373301,2
    		--133611843(+) GGACT-/AACAGG 1 -- int10--------
    rs178855871,2
    		C,F,--133611872(+) GCTAAT/-TTTTT 1 -- int12Minor allele frequency- -:0.19NS CSA 180
    rs178826141,2
    		C,F,--133612085(+) TTAGGC/TAGCTT 1 -- int17Minor allele frequency- T:0.01NS 824
    rs735573171,2
    		C,--133612303(+) TCTATG/TTTTTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs726154381,2
    		C,--133612423(+) GGGAGG/AATCAC 1 -- int11Minor allele frequency- A:0.00WA 2
    rs1868124231,2
    		--133612473(+) GAGACA/CCCCTC 1 -- int10--------
    rs1163789881,2
    		C,--133612591(+) GAGTTC/GGAGAC 1 -- int10--------
    rs1921728471,2
    		--133612756(+) ATTCTC/TTCTCT 1 -- int10--------
    rs1839937621,2
    		--133612767(+) GTGTAC/TACACA 1 -- int10--------
    rs1443217231,2
    		--133612907(+) ACACTA/GTTTTT 1 -- int10--------
    rs25156951,2
    		C,F,H,--133612978(+) catcaA/Gtttta 1 -- int111Minor allele frequency- G:0.04NS EA NA 1216
    rs561374211,2
    		C--133613284(+) GTGAAC/TTTATT 1 -- int10--------
    rs577071431,2
    		C,--133613322(+) GAGACA/GAAGTC 1 -- int10--------
    rs1877937901,2
    		--133613339(+) TTGTCC/TCCCAG 1 -- int10--------
    rs1132809611,2
    		C,--133613547(+) CACCCG/ACCTCG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1451326441,2
    		--133613566(+) AAATGC/TTGGGA 1 -- int10--------
    rs726154391,2
    		C,--133613589(+) GCCACT/CGTGCC 1 -- int11Minor allele frequency- C:0.00WA 2
    rs59780091,2
    		C,--133613726(+) ctctgC/Tgtggg 1 -- int10--------
    rs1826649141,2
    		--133613767(+) AGTAGC/TGGGGA 1 -- int10--------
    rs1448449971,2
    		--133613840(+) TGCCAC/TGTTGC 1 -- int10--------
    rs1870233331,2
    		--133613878(+) AAACAA/GTCCAA 1 -- int10--------
    rs1918427961,2
    		--133614309(+) ACTCTC/TATTTG 1 -- int10--------
    rs1835668351,2
    		--133614438(+) AGTTGC/TAGTCA 1 -- int10--------
    rs564049301,2
    		C--133614450(+) GGTTCA/GTAAAA 1 -- int10--------
    rs1884896951,2
    		--133614657(+) AAAAAA/TTTGTA 1 -- int10--------
    rs1388231151,2
    		--133614684(+) GTGTTG/TCCCAG 1 -- int10--------
    rs1386295371,2
    		C,--133614786(+) AACGA-/TAACT 
                TAAAA     		1 -- int10--------
    rs2019051421,2
    		--133614825(+) AACAC-/ATATGTG 1 -- int10--------
    rs1932386181,2
    		--133614940(+) ACATCA/GAAGAT 1 -- int10--------
    rs1857203521,2
    		--133614972(+) ACATAC/TTAAAA 1 -- int10--------
    rs1419303011,2
    		--133614989(+) AAAATA/GTTGGA 1 -- int10--------
    rs1881472371,2
    		--133615229(+) ACATTA/TTATTT 1 -- int10--------
    rs1910928291,2
    		--133615382(+) GTAGTC/TGATTT 1 -- int10--------
    rs561042821,2
    		C--133615476(+) TTCTGC/TAAA 1 -- int10--------
    rs1836457501,2
    		--133615510(+) CCATCA/TTTGTC 1 -- int10--------
    rs74727601,2
    		C--133615535(+) TCTAtC/Atctat 1 -- int12Minor allele frequency- A:0.00NA 4
    rs2000016561,2
    		--133615589(+) TCTAT-/CTAA  
                AGCAA     		1 -- int10--------
    rs1884096941,2
    		--133615606(+) CATGCC/GCTTCT 1 -- int10--------
    rs1457235771,2
    		--133615771(+) CCTTAG/TCAGGT 1 -- int10--------
    rs1813504431,2
    		--133615773(+) TTATCA/TGGTAA 1 -- int10--------
    rs2009568321,2
    		--133615862(+) TTGTG-/AAAAAA 1 -- int10--------
    rs1868680371,2
    		--133616290(+) CTGTTG/TCCCAG 1 -- int10--------
    rs1901144891,2
    		--133616348(+) CCAAAA/GTGCTA 1 -- int10--------
    rs1481098261,2
    		--133616394(+) ATACCA/GGGTTT 1 -- int10--------
    rs735573201,2
    		C,--133616568(+) TGAGCG/ACTTGA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1823476761,2
    		--133616635(+) GCTACC/TGTATG 1 -- int10--------
    rs735573221,2
    		C,--133616690(+) GTGTCG/ATTTTT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1873998031,2
    		--133616786(+) TACCTA/GAGCAT 1 -- int10--------
    rs1910787771,2
    		--133616788(+) CCTGAA/GCATAT 1 -- int10--------
    rs66382441,2
    		C,F,H,--133616809(+) ACTTAT/CTTTTT 1 -- int116Minor allele frequency- C:0.17NS EA NA 2100
    rs1433258051,2
    		--133616826(+) ACATAC/TTTTGG 1 -- int10--------
    rs59038781,2
    		C--133616850(+) TGCCCT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs14682661,2
    		C,F,A,H,--133616858(+) TTTTTT/AATCTG 1 -- int1 trp36Minor allele frequency- A:0.31NS EA NA 422
    rs1821510021,2
    		--133617298(+) TTTCTA/GTACAG 1 -- int10--------
    rs1161614221,2
    		C,--133617401(+) AGTTCC/TTCCCT 1 -- int10--------
    rs598697281,2
    		C,--133617528(+) AGTGAC/TGCTCT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs735573241,2
    		C,--133617873(+) AGCTTC/TCATGG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1854088571,2
    		--133617875(+) CTTCCA/GTGGTG 1 -- int10--------
    rs4056301,2
    		F--133618398(+) CTGGGA/TTTTAA 1 -- int14--EA NA 148
    rs1484260471,2
    		C,--133618468(+) TGATAC/TCAGAA 1 -- int10--------
    rs1901700651,2
    		--133618609(+) ATAAAC/TGCCAT 1 -- int10--------
    rs1831405411,2
    		--133618610(+) TAAACA/GCCATT 1 -- int10--------
    rs1426393671,2
    		--133618619(+) TTGTCA/GCTACT 1 -- int10--------
    rs178850631,2
    		F--133618644(+) TACAAA/GTTTGT 1 -- int11Minor allele frequency- G:0.01NS 170
    rs178839921,2
    		C,F,--133618729(+) GTCTCA/GGTGTG 1 -- int17Minor allele frequency- G:0.04NS 828
    rs1408124911,2
    		--133618839(+) TGTTTC/TTGTGA 1 -- int10--------
    rs1449076551,2
    		C,--133619050(+) TAGCAC/TTGATT 1 -- int10--------
    rs1886251421,2
    		--133619133(+) AAAAGA/GAGCTA 1 -- int10--------
    rs1467504371,2
    		--133619138(+) AAGCTA/GTGCCA 1 -- int10--------
    rs59334161,2
    		H--133619413(+) CATGCC/GTGGGT 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs178800511,2
    		C,--133619507(+) AATCCG/ATCTGG 1 -- int11Minor allele frequency- A:0.01NS 178
    rs178798321,2
    		C,F,--133619545(+) AGGGAC/TCATAC 1 -- int11Minor allele frequency- T:0.03NS 176
    rs1382437661,2
    		--133619632(+) GAAATA/GCCATC 1 -- int10--------
    rs178795321,2
    		C,F,H,--133619645(+) TATTGT/CATACT 1 -- int14Minor allele frequency- C:0.01NS NA 362
    rs1929982291,2
    		--133619719(+) TGCACC/TGTTGT 1 -- int10--------
    rs1432682631,2
    		--133619815(+) ATTTTC/GTGTCC 1 -- int10--------
    rs178793431,2
    		C,F,--133619888(+) TCCCAT/CTGAAT 1 -- int110Minor allele frequency- C:0.02NS NA WA 848
    rs178860031,2
    		C,F,--133620282(+) AATCTC/GTACTT 1 -- int12Minor allele frequency- G:0.03NS WA 178
    rs178854551,2
    		C,F,H,--133620371(+) ATTAGC/ATAGCT 1 -- int18Minor allele frequency- A:0.05NS NA WA 960
    rs1836988791,2
    		C,--133620579(+) AAGGGA/GAGAAA 1 -- int10--------
    rs763041441,2
    		C--133620600(+) TCATAA/CCGAGT 1 -- int10--------
    rs1875627541,2
    		C,--133620608(+) AGTCAA/GTTAGT 1 -- int10--------
    rs1925606471,2
    		--133620681(+) TAACCC/GTTGGA 1 -- int10--------
    rs178824491,2
    		C,F,H,--133620707(+) TTATCG/ATTCCC 1 -- int18Minor allele frequency- A:0.03NS NA WA 968
    rs1427189681,2
    		--133620955(+) AGTTCC/TGGAGC 1 -- int10--------
    rs178849101,2
    		C,--133620968(+) GACAAC/GTGATT 1 -- int11Minor allele frequency- G:0.01NS 176
    rs1835250421,2
    		--133621096(+) GTGCTA/GTAATG 1 -- int10--------
    rs1389853251,2
    		--133621189(+) TTCTTA/GTACCT 1 -- int10--------
    rs592133001,2
    		C,--133621247(+) ATGTAG/TTTTAA 1 -- int10--------
    rs1449344741,2
    		--133621292(+) TTTGTC/TGACCC 1 -- int10--------
    rs1882633501,2
    		--133621688(+) AATGAA/GTATCT 1 -- int10--------
    rs1928769811,2
    		--133621785(+) TTTGGA/GAAACT 1 -- int10--------
    rs1849286511,2
    		--133621803(+) AGAAAG/TGAGCT 1 -- int10--------
    rs1902203631,2
    		--133621912(+) TGGTCA/GGTTTT 1 -- int10--------
    rs1814734661,2
    		--133621950(+) GGCCTC/TCTGAG 1 -- int10--------
    rs1861634961,2
    		--133621968(+) TTGATA/CTCGTC 1 -- int10--------
    rs1893647251,2
    		--133622028(+) TTCTCC/TGTTTC 1 -- int10--------
    rs1399348831,2
    		--133622118(+) TATTTA/CTTGGT 1 -- int10--------
    rs1820187031,2
    		--133622397(+) TCCTGA/GTCTCA 1 -- int10--------
    rs1852516631,2
    		--133622495(+) TTTGTA/GTGCAG 1 -- int10--------
    rs1900108201,2
    		--133622585(+) ATTCAA/GGTCTC 1 -- int10--------
    rs3987121,2
    		C,F,H,--133622739(+) TACTCC/GTTGTA 1 -- int115Minor allele frequency- G:0.00EA NA NS WA CSA 485
    rs735573321,2
    		C,--133622830(+) ACCTCG/ATACAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1861705901,2
    		--133622886(+) GGATTA/GACCCT 1 -- int10--------
    rs1914511561,2
    		--133622887(+) GATTGA/GCCCTA 1 -- int10--------
    rs1467687971,2
    		--133622899(+) TTTTTA/GTATTC 1 -- int10--------
    rs1404029381,2
    		--133623049(+) ATTGCG/TTGCCA 1 -- int10--------
    rs1832967171,2
    		--133623552(+) TGAAAC/TGCTGC 1 -- int10--------
    rs1874479491,2
    		--133623618(+) ATTATG/TAGATG 1 -- int10--------
    rs1908050261,2
    		--133623676(+) AAAGCA/GAAGTG 1 -- int10--------
    rs1426449251,2
    		--133623854(+) TTAGAA/GTGTTA 1 -- int10--------
    rs1833950311,2
    		--133623904(+) ATTTAA/TCACAT 1 -- int10--------
    rs3919181,2
    		F,H--133623923(+) aaggcC/Gagaga 1 -- int17Minor allele frequency- G:0.00EA NA NS 474
    rs1510391521,2
    		--133623930(+) GAGAAA/GTTTCA 1 -- int10--------
    rs1995269021,2
    		--133624263(+) TATAAC/TATTTA 1 -- int10--------
    rs1866152721,2
    		--133624380(+) TTTTTA/GTAAAG 1 -- int10--------
    rs1925026321,2
    		--133624415(+) AATAAG/TGGAAT 1 -- int10--------
    rs672315481,2
    		C--133624532(+) TTATG-/TATATAT 1 -- int10--------
    rs178790061,2
    		C,F,--133624617(+) ATTTTC/TCATGT 1 -- int11Minor allele frequency- T:0.02NS 140
    rs1878518661,2
    		--133624622(+) CCATGC/TGTTAT 1 -- int10--------
    rs178787761,2
    		C,F,--133624690(+) ACCAGC/TTAGTA 1 -- int11Minor allele frequency- T:0.02NS 140
    rs1929580621,2
    		--133624948(+) TCACAA/CCGTCA 1 -- int10--------
    rs1844523681,2
    		--133625285(+) TTTGTA/GTAAAT 1 -- int10--------
    rs1892075201,2
    		--133625534(+) ACCATC/TGTAAG 1 -- int10--------
    rs1819067371,2
    		--133625581(+) CACTGA/GTTGAC 1 -- int10--------
    rs1851119031,2
    		--133625663(+) ATCCCA/GTGTTT 1 -- int10--------
    rs789249151,2
    		C,--133625979(+) TGTGTA/GTATAT 1 -- int10--------
    rs1807239131,2
    		--133625981(+) TGTATA/GTATAT 1 -- int10--------
    rs2021926051,2
    		--133626289(+) ACCCA-/CCAAAA 1 -- int10--------
    rs735573391,2
    		C,--133626338(+) TTTTTG/AAGAAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1861397641,2
    		--133626429(+) ATATCA/CTTCCC 1 -- int10--------
    rs1910600501,2
    		--133626733(+) CACAGA/GAGCGG 1 -- int10--------
    rs1812763071,2
    		--133626812(+) GGAGGA/CAGGAA 1 -- int10--------
    rs66382461,2
    		C,F,H,--133626946(+) gtctcC/Aagcca 1 -- int17Minor allele frequency- A:0.01NS EA NA 690
    rs178872081,2
    		C,F,H,--133627310(+) ATATTC/TAAATT 1 -- int17Minor allele frequency- T:0.04NS NA WA 956
    rs1857938471,2
    		--133627408(+) GAATAA/TCTCCA 1 -- int10--------
    rs1487809331,2
    		C,F,--133627615(+) AAGGTC/TGCAAG 2 V syn11Minor allele frequency- T:0.00NA 4550
    rs1906574791,2
    		--133627805(+) AATTAC/TAGTCA 1 -- int10--------
    rs557429831,2
    		C,--133627823(+) GCCTAA/CTATTA 1 -- int10--------
    rs1832233361,2
    		--133627849(+) GCATGC/TTAATT 1 -- int10--------
    rs1875445021,2
    		--133627886(+) CAGAGG/TATTTT 1 -- int10--------
    rs1385919991,2
    		--133627895(+) TTGGGA/CCCCCT 1 -- int10--------
    rs178810981,2
    		C,F,--133627911(+) AATTAA/GGAATA 1 -- int112Minor allele frequency- G:0.17NS NA WA CSA 848
    rs178858671,2
    		C,F,--133627973(+) CTGGAC/GCTCCT 1 -- int14Minor allele frequency- G:0.02NS NA WA 182
    rs1923251371,2
    		--133628081(+) TACCTA/GTGCTG 1 -- int10--------
    rs178852491,2
    		C,F,H,--133628192(+) AGGTTA/GCTGAG 1 -- int18Minor allele frequency- G:0.03NS NA WA 976
    rs1416187011,2
    		--133628232(+) TAGTCC/TGCTAT 1 -- int10--------
    rs1824618481,2
    		--133628288(+) TTTGCA/TACCTT 1 -- int10--------
    rs178823631,2
    		C--133628370(+) AAAACA/GTTAAG 1 -- int12Minor allele frequency- G:0.01NS NA 182
    rs178839421,2
    		C,F,H,--133628482(+) TCACGG/ATATCT 1 -- int19Minor allele frequency- A:0.03NS NA WA 1070
    rs594790531,2
    		C,--133628755(+) TTTAGG/TGTTTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1995484631,2
    		--133628825(+) CTGGT-/AATATG 1 -- int10--------
    rs1879824221,2
    		--133628846(+) GAGATA/GGACTG 1 -- int10--------
    rs1926592791,2
    		--133628995(+) CCCCAC/TGTCAG 1 -- int10--------
    rs1843257331,2
    		--133629100(+) TATTTA/CCACTC 1 -- int10--------
    rs1875151501,2
    		--133629138(+) CTTGGA/GGGTGA 1 -- int1