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

POLE Gene

protein-coding   GIFtS: 67
GCID: GC12M133200

polymerase (DNA directed), epsilon, catalytic subunit

(Previous names: polymerase (DNA directed), epsilon )
 Explore 25 diseases affiliated with
POLE via our new
 Human Malady Compendium 
Biological research products
for POLE
    

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

Aliases
Polymerase (DNA Directed), Epsilon, Catalytic Subunit1 2     Polymerase (DNA Directed), Epsilon1
POLE11 2 3     CRCS122
DNA Polymerase II Subunit A2 3     DNA Polymerase Epsilon Catalytic Subunit A2
EC 2.7.7.73 8     EC 2.7.78

External Ids:    HGNC: 91771   Entrez Gene: 54262   Ensembl: ENSG000001770847   OMIM: 1747625   UniProtKB: Q078643   

Export aliases for POLE gene to outside databases

Previous GC identifers: GC12U990073 GC12P132569 GC12M132825 GC12M131439 GC12M131810 GC12M131710 GC12M129980


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

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864
Function: Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_024477.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLE gene promoter:
         Max   Max1   AML1a   ATF-2   Nkx2-5   Evi-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POLE promoter sequence
   Search SABiosciences Chromatin IP Primers for POLE

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


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

Entrez Gene cytogenetic band: 12q24.3   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24.3

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M133200:  view genomic region     (about GC identifiers)

Start:
133,200,345 bp from pter      End:
133,413,387 bp from pter
Size:
213,043 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864 (See protein sequence)
Recommended Name: DNA polymerase epsilon catalytic subunit A  
Size: 2286 amino acids; 261518 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE,
POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1
Subcellular location: Nucleus
Sequence caution: Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Sequence=AAA15448.1; Type=Miscellaneous
discrepancy;
Secondary accessions: Q13533 Q86VH9

Explore the universe of human proteins at neXtProt for POLE: NX_Q07864

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07864

  • 4/16 DME Specific Peptides for POLE (Q07864) (see all 16)
     LITNREI  DTDGIWC  VMRKGAR  LAFDIET 

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

    REFSEQ proteins: NP_006222.2  
    ENSEMBL proteins: 
     ENSP00000415058   ENSP00000322570   ENSP00000442578   ENSP00000445753   ENSP00000442519  
     ENSP00000439052   ENSP00000439842   ENSP00000443213   ENSP00000406383  
    Reactome Protein details: Q07864
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for POLE 
    GenScript Custom Purified and Recombinant Proteins Services for POLE
    Novus Biologicals POLE Protein
    Novus Biologicals POLE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16762037
    GO:0005654nucleoplasm TAS--
    GO:0008622epsilon DNA polymerase complex IDA10801849


    POLE for ontologies           About GeneDecksing



    POLE Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn


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

    POLE for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR006172 DNA-dir_DNA_pol_B
     IPR006133 DNA-dir_DNA_pol_B_exonuc
     IPR006134 DNA-dir_DNA_pol_B_multi_dom
     IPR013697 DNA_pol_e_suA_C
     IPR012337 RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q07864

    ProtoNet protein and cluster: Q07864

    2 Blocks protein families:
    IPB006134 DNA polymerase B domain
    IPB013697 Domain of unknown function DUF1744


    UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864
    Domain: The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is
    necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme
    Domain: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By similarity)
    Similarity: Belongs to the DNA polymerase type-B family
    Similarity: Contains 1 CysA-type zinc finger


    (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: DPOE1_HUMAN, Q07864
    Function: Participates in DNA repair and in chromosomal DNA replication
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

    Enzyme Numbers (IUBMB): EC 2.7.7.71 2 EC 2.7.72

    miRNA
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    OriGene 3'-UTR Clone: POLE
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLE
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POLE
    SwitchGear 3'UTR luciferase reporter plasmidPOLE 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLE (see all 7)
    OriGene shRNA RFP: POLE
    OriGene siRNA: POLE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLE

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE 

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    Search LifeMap BioReagents cell lines for POLE

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

    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:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA16762037
    GO:0003682chromatin binding IDA16762037
    GO:0003887DNA-directed DNA polymerase activity IMP16762037


    POLE for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for POLE:
     Increased S DNA content  S arrest  Synthetic lethal with Ras 

    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pole):
     hematopoietic system  immune system  integument  mortality/aging  tumorigenesis 

    POLE for phenotypes           About GeneDecksing


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

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lagging Strand Synthesis
    8/10 pathways (see all 10)
    Telomere C-strand (Lagging Strand) Synthesis0.91
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.59
    Extension of Telomeres0.83
    DNA replication0.56
    Gap-filling DNA repair synthesis and ligation in TC-NER0.64
    Mismatch Repair in Eukaryotes0.33
    Gap-filling DNA repair synthesis and ligation in GG-NER0.64
    DNA replication initiation0.18
    2Ubiquitinated Orc1 is degraded by the proteasome
    DNA Replication Pre-Initiation0.62
    DNA Replication0.49
    M/G1 Transition0.62
    S Phase0.40
    Synthesis of DNA0.51
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)1.00
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    4Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    5G1/S Transition
    G1/S Transition1.00
    Mitotic G1-G1/S phases0.80

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for POLE
        Cell cycle Transition and termination of DNA replacation

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for POLE
        Mismatch Repair in Eukaryotes
    DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLE
        Cell cycle Transition and termination of DNA replication

    2 BioSystems Pathways for POLE 
        G1 to S cell cycle control
    DNA Replication

    5/25        Reactome Pathways for POLE (see all 25)
        Extension of Telomeres
    Telomere Maintenance
    DNA Repair
    Mitotic G1-G1/S phases
    Repair synthesis for gap-filling by DNA polymerase in TC-NER


    5/6         Kegg Pathways  (Kegg details for POLE) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication
    Base excision repair


    POLE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POLE

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

    5/716 Interacting proteins for POLE (Q078642, 3 ENSP000003225704) via UniProtKB, MINT, STRING, and/or I2D (see all 716)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000084S phase of mitotic cell cycle TAS--
    GO:0000216M/G1 transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--


    POLE for ontologies           About GeneDecksing



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

    Browse Tocris compounds for POLE

    6 HMDB Compounds for POLE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    1 DrugBank Compound for POLE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cladribine2-CdA (see all 5)4291-63-8targetinhibitor19576186

    Search CenterWatch for drugs/clinical trials and news about POLE / DPOE1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POLE gene: 
    NM_006231.2  

    Unigene Cluster for POLE:

    Polymerase (DNA directed), epsilon, catalytic subunit
    Hs.524871  [show with all ESTs]
    Unigene Representative Sequence: BC144561
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000434528(uc001ukq.1) ENST00000541627 ENST00000320574(uc001uks.1 uc009zyu.1)
    ENST00000537064(uc001ukr.1 uc010tbq.1) ENST00000534922 ENST00000535270
    ENST00000544692 ENST00000538196 ENST00000543516 ENST00000544870 ENST00000441786
    ENST00000541213 ENST00000544414 ENST00000416953 ENST00000542362 ENST00000540987
    ENST00000539006 ENST00000536445

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLE
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    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLE
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLE
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLE

    Additional cDNA sequence: 

    AF128542.1 AF128544.1 AK025087.1 AK093003.1 AL080203.1 BC007599.1 BC011376.1 BC021559.1 
    BC087613.1 BC144561.1 L09561.1 S60080.1 U49356.1 

    17 DOTS entries:

    DT.445040  DT.100755029  DT.101982981  DT.316471  DT.100755031  DT.92012151  DT.97769357  DT.102831799 
    DT.95144247  DT.97822386  DT.87015676  DT.121172767  DT.91905918  DT.92354048  DT.120704907  DT.91828132 
    DT.95171522 

    24/206 AceView cDNA sequences (see all 206):

    AI564263 BX493014 AI631774 AI274732 AF128542 R67657 AL046781 BC021559 
    BU172196 AA768922 BM458272 BM692718 AL043786 BI013194 BQ049812 BU521341 
    BX644983 BU183348 BQ222760 BQ224205 AA227757 BM477002 BC007599 BM683632 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for POLE (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                    -                                                                                         -     -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                    -                                       
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
    SP1:                                      -                                               -                                                     -               
    SP2:                                                                                      -                                                     -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                              -                                             

    ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
    SP1:                          -     -                             -           -                           
    SP2:                          -     -                             -           -                           
    SP3:                          -     -                             -           -                           
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for POLE

    (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

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

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

    About this image
    See POLE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLE

    SOURCE GeneReport for Unigene cluster: Hs.524871
        SABiosciences Custom PCR Arrays for POLE
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLE
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat POLE
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLE
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

    (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 POLE gene from 10/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pole1 , 5 polymerase (DNA directed), epsilon1, 5 86(n)1
    91(a)1
      5 (53.45 cM)5
    189731  NM_011132.21  NP_035262.21 
     1102863065 
    chicken
    (Gallus gallus)
    Aves POLE1 polymerase (DNA directed), epsilon 79(n)
    84.17(a)
      416997  XM_001233984.2  XP_001233985.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLE6
    --
    81(a)
    1 ↔ 1
    GL343417.1(433022-459635)
    African clawed frog
    (Xenopus laevis)
    Amphibia pole-A2 polymerase (DNA directed), epsilon 75.54(n)    AF202988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pole1 polymerase (DNA directed), epsilon 73.72(n)
    80.55(a)
      553405  NM_001128523.1  NP_001121995.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-&egr;3
    DNApol-epsilon1
    DNA dependent DNA replication epsilon DNA
    polymerase3
    DNA polymerase epsilon1
    40(a)3
    60.8(n)1
    58.13(a)1
      94E133
    427581  NM_079738.21  NP_524462.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F33H2.51 , 3 DNA polymerase family B (3 domains)3
    Protein F33H2.51
    43(a)3
    51.47(n)1
    47.2(a)1
      I(15013741-15021915)3
    1733681  NM_061215.21  NP_493616.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL2(YNL262W)4
    POL21
    Catalytic subunit of DNA polymerase (II) epsilon, a more4
    Pol2p1
    48.7(n)1
    45.17(a)1
      14(148212-154880)4
    8554591, 4  NP_014137.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TIL11 DNA polymerase epsilon subunit 1 50.43(n)
    46.06(a)
      837346  NM_100699.5  NP_172303.5 
    rice
    (Oryza sativa)
    Liliopsida Os02g05119001 hypothetical protein 50.69(n)
    46.16(a)
      4329458  NM_001053474.2  NP_001046939.2 


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

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

    (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

    1571/1616 NCBI SNPs in POLE are shown (see all 1616    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57450021,2
    C,F,--129990912(-) GGGGGG/-TGGGA 1 -- int13Minor allele frequency- -:0.13NS NA 176
    rs1997624101,2
    C--129992691(+) TTTAAA/GGNNNN 1 -- int10--------
    rs734851031,2
    C,--130041520(+) GCAGGC/TAAACA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1154484561,2
    C,F,--130041610(+) AAGGTA/CAAAGC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1884172351,2
    --133199879(+) AAATAC/TCCAGC 1 -- int10--------
    rs1476213381,2
    --133199976(+) ACTCAA/GATGCC 1 -- int10--------
    rs57450971,2
    C,F,--133199982(-) GCTGCG/AGGCAT 1 -- int17Minor allele frequency- A:0.03NS NA WA 438
    rs1422394581,2
    --133199992(+) CTAGCA/CTCACA 1 -- int10--------
    rs57450961,2
    C,F,--133200016(-) GGGCGC/TCAGTC 1 -- int12Minor allele frequency- T:0.03NS CSA 176
    rs1126113461,2
    C,--133200018(+) CTGGCG/ACCCAC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs57450951,2
    C,F,--133200032(-) CGCCCG/AGTGCA 1 -- int13Minor allele frequency- A:0.05NS NA EA 414
    rs48836301,2
    C,F,A,H,--133200087(-) GGGCCG/AGGGGA 1 -- int111Minor allele frequency- A:0.36NS NA WA CSA EA 554
    rs57450931,2
    C,--133200254(-) GGGCCG/ACCTGC 1 -- int11Minor allele frequency- A:0.01NS 178
    rs1434934221,2
    --133200349(+) TAGAGA/GAACTT 1 -- ut310--------
    rs57450921,2
    C,--133200370(-) TTTTAT/CTTGTA 1 -- ut312Minor allele frequency- C:0.01NS WA 294
    rs118316011,2
    C,H--133200497(+) GCTCTT/CGTCTG 1 -- ut31 ese31Minor allele frequency- C:0.00NA 2
    rs57450911,2
    C,F,H,--133200663(-) CCTCTA/GTCAGC 1 -- ut318Minor allele frequency- G:0.03NS NA WA 1092
    rs57450901,2
    C,F,H,--133200740(-) AATCCA/GGACCC 1 -- ut31 ese310Minor allele frequency- G:0.03NS NA CSA WA 1077
    rs143021,2
    C,F,A,H,--133200748(+) ATTCCC/TGGGGA 1 -- ut31 ese327Minor allele frequency- T:0.29MN NS EA NA WA CSA 3060
    rs57450891,2
    C,F,--133200749(-) TTCCCC/TGGGAA 1 -- ut31 ese32Minor allele frequency- T:0.12NS WA 286
    rs57450881,2
    C,--133200787(-) TGGCCC/ACACAG 1 -- ut31 ese32Minor allele frequency- A:0.01NS NA 168
    rs57450871,2
    C--133200854(-) GAGACG/AAGACG 1 -- ut31 ese33Minor allele frequency- A:0.01NS NA 168
    rs1865702821,2
    --133200859(+) CGTCTA/CAGAGC 1 -- ut310--------
    rs1914195971,2
    --133200937(+) GGGCAC/TCTAGA 1 -- ut310--------
    rs1379117281,2
    --133200990(+) GGCCTG/TGAAAA 1 -- ut310--------
    rs1836349841,2
    --133201006(+) CACTGC/TGTGAG 1 -- ut310--------
    rs57450861,2
    C,--133201019(-) CTGGGC/TGCCGT 1 -- ut31 ese31Minor allele frequency- T:0.01NS 168
    rs57450851,2
    C--133201039(-) TGAGCG/AAGGCT 1 -- ut313Minor allele frequency- A:0.01NS NA 172
    rs1461115961,2
    --133201150(+) CCTCCC/TCGTTC 1 -- ut310--------
    rs1389800401,2
    --133201165(+) GCCTGC/GGGTCA 1 -- ut310--------
    rs794191481,2
    C,F,--133201193(+) GGTGGT/CCAGTG 1 -- ut311Minor allele frequency- C:0.10WA 118
    rs1487881801,2
    C,F,--133201324(+) CTCCAG/CGGTCT 2 /L /V mis11Minor allele frequency- C:0.00NA 4544
    rs734814531,2
    C,F,--133201327(+) CAGGGT/ACTCCA 2 /T /S mis13Minor allele frequency- A:0.01WA NA 4750
    rs2009113381,2
    --133201348(+) CATGCC/TGTAGT 2 S G mis10--------
    rs1422221591,2
    C,--133201349(+) ATGCCG/ATAGTG 2 /Y syn11Minor allele frequency- A:0.00NA 4550
    rs1163236601,2
    C,F,--133201378(+) TATTCC/TGATCT 2 R G mis13Minor allele frequency- T:0.01WA NA 4866
    rs731550561,2
    C,F,--133201381(+) TCCGAT/ACTGTT 2 /I /F mis14Minor allele frequency- A:0.00NA EU 6109
    rs1392468101,2
    C,--133201416(+) AGGCAC/GAGTGA 1 -- int10--------
    rs57450821,2
    F--133201441(-) TTGGCCTCCT/
            
    CTCTG
    1 -- int1 trp31Minor allele frequency- -:0.11NS 152
    rs786869671,2
    C,,--133201443(+) GAGAGC/GAGGCC 1 -- int10--------
    rs2009266321,2
    --133201452(+) CCAAGC/GAGGCC 1 -- int10--------
    rs1908130541,2
    C,--133201522(+) CTCCCA/GCGCAG 2 A V mis10--------
    rs2000821201,2
    C,--133201524(+) CCCGCA/GCAGCT 2 C syn10--------
    rs1499736441,2
    C,F,--133201563(+) ACCCCG/ACGGCA 2 /R syn12Minor allele frequency- A:0.00NA EU 5709
    rs57450801,2
    C,F,--133201605(-) CTGGCG/ACCCAT 1 -- int13Minor allele frequency- A:0.06NS CSA WA 246
    rs1442370371,2
    C,--133201618(+) CTCCCA/GCGCTG 1 -- int10--------
    rs57450791,2
    C,F,H,--133201668(-) CCCACG/AAATGT 1 -- int16Minor allele frequency- A:0.01NS EA WA 646
    rs762209541,2
    C,--133201703(+) GCTGTG/ATGCAG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1447380761,2
    --133201717(+) GCCCTC/TGGTTA 1 -- int10--------
    rs1834149921,2
    --133201771(+) CTACAC/TCCACC 1 -- int10--------
    rs1166042621,2
    F,--133201780(+) CCCTCG/ACTGTG 1 -- int11Minor allele frequency- A:0.10WA 118
    rs57450781,2
    C,F,H--133201903(-) AGCAGA/CGGCTG 1 -- int1 ese35Minor allele frequency- C:0.01NS NA 410
    rs48835441,2
    C,F,A,H,--133201947(-) GTTGCG/ACAGCT 1 -- int1 ese325Minor allele frequency- A:0.30NS EA NA WA CSA EU 3092
    rs48835431,2
    C,F,A,H,--133202004(-) CTAGCA/GGAAGG 1 -- int1 ese328Minor allele frequency- G:0.45NS EA NA WA CSA EU 3238
    rs1865495781,2
    --133202052(+) AGGTGC/TTCAAC 1 -- int10--------
    rs57450771,2
    C,F,--133202135(-) AGGCAC/TGCCCT 1 -- int12Minor allele frequency- T:0.04NS WA 286
    rs57450761,2
    C,F,--133202167(-) ACTCCC/TGGGAG 1 -- int12Minor allele frequency- T:0.05NS WA 286
    rs2008834791,2
    --133202202(+) CAGGGA/CACACG 1 -- int10--------
    rs57450751,2
    C,F,A,H,--133202215(-) CATGCC/TGCCTG 1 -- int111Minor allele frequency- T:0.33NS NA WA CSA EA EU 1862
    rs111469821,2
    H--133202282(+) ACCAGC/TGTCAT 2 T syn1 ese34Minor allele frequency- T:0.00NS EA 412
    rs1476111441,2
    F--133202291(+) ATCTCG/AATGGC 2 /I syn11Minor allele frequency- A:0.00NA 4552
    rs57450741,2
    C,F,--133202385(-) GGCTGG/TTGACC 1 -- int12Minor allele frequency- T:0.01NS WA 298
    rs57450731,2
    C,F,A,H,--133202428(-) CCTCTC/TCTGAG 1 -- int1 trp39Minor allele frequency- T:0.46NS NA WA CSA EA 544
    rs57450721,2
    C,--133202430(-) TTCCTC/GTCCTG 1 -- int1 trp32Minor allele frequency- G:0.02NS WA 294
    rs1177174131,2
    --133202437(+) GGAAGG/CGGCTG 1 -- int11Minor allele frequency- C:0.01NA 120
    rs57450711,2
    C,F,--133202469(-) CAGGAG/TACTCG 1 -- int14Minor allele frequency- T:0.03NS CSA WA 296
    rs1421987071,2
    --133202518(+) GAGCCC/TTTCCT 1 -- int10--------
    rs1422188341,2
    --133202546(+) ATGGTA/GTGGGG 1 -- int10--------
    rs1147787301,2
    C,F,--133202739(+) AGGTCG/ACGGCA 2 /R syn12Minor allele frequency- A:0.00NA 4546
    rs57450681,2
    C,F,H,--133202740(-) CTGCCG/ACGACC 2 /H /R mis1 ese325Minor allele frequency- A:0.01NS EA NA WA EU 8353
    rs57450671,2
    C,F,H,--133202759(-) TCTGCC/TGCAGC 2 R C mis1 ese39Minor allele frequency- T:0.01NS EA NA 870
    rs1160760601,2
    C,F,--133202781(+) AGCACG/ATAGGA 2 /Y syn15Minor allele frequency- A:0.00EA EU NA 6259
    rs57450661,2
    C,F,H,--133202816(-) TCTCCG/AAGGAG 2 /K /E mis1 ese314Minor allele frequency- A:0.01NS EA NA EU 7337
    rs1996132421,2
    --133202854(+) GGTCTC/TGGTTC 2 Q R mis10--------
    rs2015733871,2
    --133202927(+) ACATCA/GGGAAG 1 -- int10--------
    rs1403945511,2
    --133203035(+) TTAGAC/TGCCTC 1 -- int10--------
    rs1827733681,2
    --133203036(+) TAGACA/GCCTCA 1 -- int10--------
    rs1882929481,2
    --133203056(+) TCTACA/GTTAGC 1 -- int10--------
    rs57450651,2
    C,F,--133203158(-) tctctT/Ccagtg 1 -- int1 trp32Minor allele frequency- C:0.02NS NA 236
    rs57450641,2
    C,F,--133203200(-) GTATCAG/-GGGAT 1 -- int11Minor allele frequency- -:0.23NS 178
    rs1927810731,2
    --133203212(+) TAGAAC/TCAAAG 1 -- int10--------
    rs1852686261,2
    --133203220(+) AAGACC/TGTACT 1 -- int10--------
    rs1502895191,2
    --133203249(+) AACAGC/TCTGAG 1 -- int10--------
    rs57450621,2
    C,F,--133203267(-) cgcatT/Atttgt 1 -- int13Minor allele frequency- A:0.03NS NA EA 420
    rs57450611,2
    C,F,A,H,--133203297(-) TCTTGG/CATTCA 1 -- int128Minor allele frequency- C:0.27NS EA NA WA CSA 2726
    rs1876067941,2
    --133203302(+) GCAAGA/GTCGAA 1 -- int10--------
    rs57450591,2
    C,F,A,--133203351(-) TTAGTG/AACCTT 1 -- int116Minor allele frequency- A:0.23NS NA WA CSA EA 634
    rs57450581,2
    C,--133203362(-) ttttcC/Tataac 1 -- int11Minor allele frequency- T:0.01NS 124
    rs1924704391,2
    --133203431(+) ACAAGC/TGTATC 1 -- int10--------
    rs1161108211,2
    F,--133203468(+) AACCAC/ACTCAA 1 -- int11Minor allele frequency- A:0.06WA 118
    rs793400191,2
    F,--133203574(+) GTACAT/CATAAA 1 -- int11Minor allele frequency- C:0.04WA 118
    rs116109851,2
    C,H--133203605(+) ctcacG/Tcctgt 1 -- int10--------
    rs57450561,2
    C,F,--133203730(-) gccacC/Tatgcc 1 -- int12Minor allele frequency- T:0.08NS CSA 120
    rs754497481,2
    --133203982(+) TGGGGC/TTCAAT 1 -- int10--------
    rs1849710731,2
    --133204058(+) TGTTTA/GTAATC 1 -- int10--------
    rs341882311,2
    C,--133204118(+) GGGCT-/CAAA  
            
    CAGTC
    1 -- int10--------
    rs1881035591,2
    --133204221(+) TTAAGC/TGCATA 1 -- int10--------
    rs1494142621,2
    --133204251(+) ACAATG/TTATGT 1 -- int10--------
    rs765387391,2
    C,F,--133204282(+) TATTGC/TTCAGA 1 -- int11Minor allele frequency- T:0.03NA 120
    rs120998031,2
    --133204324(+) tcgcaA/Ctcgtt 1 -- int11Minor allele frequency- C:0.01WA 118
    rs48836291,2
    C,F,A,H,--133204362(-) GCAGCT/CGTTTA 1 -- int112Minor allele frequency- C:0.27NS EA NA WA CSA 786
    rs48835421,2
    C,F,--133204412(-) GAAATT/AGCCAC 1 -- int110Minor allele frequency- A:0.49NA WA CSA EA 372
    rs72962721,2
    C,--133204482(+) TCTGTG/AGCATG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1481551631,2
    --133204500(+) GTTTGA/GTAACA 1 -- int10--------
    rs1420214441,2
    --133204514(+) CACCCA/CCAGTA 1 -- int10--------
    rs1470943381,2
    --133204657(+) AGGTGC/TGGTGG 1 -- int10--------
    rs1845178491,2
    --133204667(+) GCTCAC/TGCCTG 1 -- int10--------
    rs1114541161,2
    C,--133204740(+) CTGGCC/TAACAT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1898356981,2
    --133204774(+) AATACA/GAAAAT 1 -- int10--------
    rs48836281,2
    C,F,A,H,--133204797(-) GCAAGT/CGCCAC 1 -- int16Minor allele frequency- C:0.36NA WA 14
    rs1447001381,2
    --133204967(+) CTTGTA/GCCTGT 1 -- int10--------
    rs122300221,2
    C,F,A,--133205160(+) GGAGGT/CGGAGG 1 -- int15Minor allele frequency- C:0.40NA WA 10
    rs1404975161,2
    --133205173(+) GCAGCC/GAGCCA 1 -- int10--------
    rs1116425671,2
    --133205212(+) CGACAG/AAGCAA 1 -- int12Minor allele frequency- A:0.07CSA WA 120
    rs1491282891,2
    C,--133205231(+) CATCT-/CAAAACAAAAC
    AAAACAAAACAAAA
    CAAAA
    1 -- int10--------
    rs1122260961,2
    C--133205255(+) ACAAAA/G/TCAAAA 1 -- int10--------
    rs560435381,2
    C--133205275(+) CAAAA-/CAAAACAAAAC
    AAAACAAAACAAAA
    AACTA
    1 -- int11Minor allele frequency- CAAAACAAAACAAAACAAAACAAAA:0.00NA 2
    rs745129711,2
    --133205299(+) CCATGA/GAAAGC 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1813964131,2
    --133205507(+) ACCCCC/TTCTCC 1 -- int10--------
    rs1858129211,2
    --133205527(+) CAAATA/GTTCTT 1 -- int10--------
    rs1145992961,2
    C,F,--133205574(+) TTTCAA/GTTTAC 1 -- int11Minor allele frequency- G:0.09WA 118
    rs746549921,2
    F,--133205654(+) ATAAAC/TGTTGA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs48835411,2
    C,F,A,--133205655(-) TTCAAT/CGTTTA 1 -- int110Minor allele frequency- C:0.42NA WA CSA EA 372
    rs123219211,2
    A,--133205664(+) aaagtC/Tgaaat 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs1497086241,2
    --133205665(+) AAGTCA/GAAATT 1 -- int10--------
    rs1455764961,2
    --133205886(+) ATCTGC/TCGCTA 1 -- int10--------
    rs1488938581,2
    --133205959(+) TAGATA/GGCATC 1 -- int10--------
    rs74870631,2
    C,--133205980(+) AGAAGG/ACTGTT 1 -- int15Minor allele frequency- A:0.15NA WA EA 362
    rs1427263961,2
    --133206020(+) TAGCCA/CCCTTC 1 -- int10--------
    rs1905726431,2
    --133206043(+) AGACAA/GATCTT 1 -- int10--------
    rs1817996801,2
    --133206075(+) CTCCAA/CCCGCA 1 -- int10--------
    rs1862586921,2
    --133206077(+) CCACCC/TGCACC 1 -- int10--------
    rs1464158151,2
    --133206147(+) CCAACC/TTCCGC 1 -- int10--------
    rs74856681,2
    C,F,A,--133206166(+) AGCTTC/TCCTTC 1 -- int1 trp310Minor allele frequency- T:0.34NA WA CSA EA 371
    rs1906111541,2
    --133206178(+) ACAGCC/TTCCTC 1 -- int10--------
    rs74850561,2
    C,F,A,--133206295(+) TCCATA/GTCAGC 1 -- int19Minor allele frequency- G:0.49NA WA CSA EA 370
    rs1408479021,2
    --133206303(+) AGCAAC/TAGGAT 1 -- int10--------
    rs48835401,2
    C,F,--133206307(-) AAGCAG/TCCTGT 1 -- int111Minor allele frequency- T:0.20NA WA CSA EA 373
    rs79800361,2
    C,F,--133206428(+) tgtctC/Tgactt 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1446635081,2
    --133206473(+) TCTTTA/GTGTAA 1 -- int10--------
    rs1385590881,2
    --133206571(+) TCACCA/GGGACT 1 -- int10--------
    rs1402031761,2
    --133206575(+) CGGGAC/TTGGGG 1 -- int10--------
    rs1504491591,2
    --133206599(+) AAGGGC/TGAGAT 1 -- int10--------
    rs1382815551,2
    --133206630(+) GAGCAA/CTCAGG 1 -- int10--------
    rs79638581,2
    C,F,A,H,--133206648(+) CAACAC/TTGATG 1 -- int128Minor allele frequency- T:0.28NS EA NA WA CSA 2774
    rs1157969321,2
    C,F,--133206683(+) GGTTCA/GTGGCG 1 -- int11Minor allele frequency- G:0.11WA 118
    rs1496368241,2
    --133206688(+) ATGGCA/GCCCCA 1 -- int10--------
    rs1469122671,2
    --133206762(+) AAATAC/TCCTGA 1 -- int10--------
    rs1827873161,2
    --133206773(+) GAGTTA/CCCAAC 1 -- int10--------
    rs1877642101,2
    --133206849(+) ACAAAC/TCTTCC 1 -- int10--------
    rs755621181,2
    --133206876(+) GTAACC/TGCTTC 1 -- int12Minor allele frequency- T:0.07CSA WA 120
    rs123014281,2
    --133206959(+) gcacaC/Ttgtat 1 -- int10--------
    rs1831345261,2
    --133207056(+) CACAGC/TCAGGC 1 -- int10--------
    rs1874007251,2
    --133207074(+) CTCACA/GCCTGT 1 -- int10--------
    rs74863661,2
    A--133207179(+) aaaaaA/Tacaaa 1 -- int10--------
    rs74847781,2
    H--133207181(+) aaataC/Aaaaaa 1 -- int14Minor allele frequency- A:0.00NS EA 392
    rs1922466751,2
    --133207213(+) GCACCG/TGTAAT 1 -- int10--------
    rs57450551,2
    C,--133207262(-) agtggC/Tgcgat 1 -- int11Minor allele frequency- T:0.01NS 172
    rs57450541,2
    C,F,H,--133207363(-) ggtatC/Agcatt 1 -- int16Minor allele frequency- A:0.04NS NA CSA WA 302
    rs57450531,2
    C,F,--133207375(-) taggtG/Atgtag 1 -- int15Minor allele frequency- A:0.09NS NA WA 414
    rs1474599921,2
    --133207397(+) GCAATG/TTAAAA 1 -- int10--------
    rs48836271,2
    C,F,A,H,--133207412(-) TTGGTG/ATCATT 1 -- int128Minor allele frequency- A:0.28NS EA NA WA CSA 2650
    rs1847548361,2
    --133207425(+) CCTGGA/TGAGGA 1 -- int10--------
    rs1485266751,2
    --133207554(+) GAGAAC/TTGAAA 1 -- int10--------
    rs57450491,2
    C,--133207637(-) tttgcG/Attgct 1 -- int11Minor allele frequency- A:0.01NS 176
    rs1507671801,2
    --133207645(+) AAATGG/TCCTTC 1 -- int10--------
    rs1878587611,2
    --133207652(+) CTTCCA/GCCAGT 1 -- int10--------
    rs57450481,2
    C,--133207703(-) tgttgC/Agagca 1 -- int11Minor allele frequency- A:0.01NS 176
    rs57450471,2
    C,F,H,--133207715(-) GAACTC/TCCTTT 1 -- int1 trp328Minor allele frequency- T:0.14NS NA EA WA CSA 3307
    rs57450451,2
    C,F,--133207789(-) tgtgcA/Ggcctt 1 -- int18Minor allele frequency- G:0.07NS NA WA 546
    rs1931503351,2
    --133207823(+) TAGAAC/GAGAAA 1 -- int10--------
    rs57450441,2
    C,F,H,--133207888(-) ccccgC/Gactgc 1 -- int16Minor allele frequency- G:0.02NS EA WA 702
    rs57450431,2
    C,F,--133207902(-) cgcccG/Aaaaac 1 -- int16Minor allele frequency- A:0.03NS NA WA 436
    rs48836261,2
    C,F,A,H,--133207967(-) CAGTTG/CTGTGA 1 -- int125Minor allele frequency- C:0.25NS EA NA WA CSA 2528
    rs1843789121,2
    --133208033(+) TAAAAC/TATGTA 1 -- int10--------
    rs790597271,2
    C,--133208052(+) TAAAGG/AAATTA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs57450421,2
    C,--133208056(-) ATTTTA/CATTCC 1 -- int13Minor allele frequency- C:0.01NS NA WA 298
    rs57450411,2
    C,F,H,--133208127(-) CTAAGG/ATTACG 1 -- int120Minor allele frequency- A:0.02NS EA NA CSA WA 1958
    rs1893204051,2
    --133208284(+) GCATCC/TGAGCA 1 -- int10--------
    rs57450401,2
    C,F,--133208288(-) AGCTTG/TCTCGG 1 -- int13Minor allele frequency- T:0.08NS NA EA 418
    rs57450391,2
    C,F,--133208291(-) GAGAGC/TTTGCT 1 -- int16Minor allele frequency- T:0.14NS NA WA EA 540
    rs57450381,2
    C,F,--133208292(-) TGAGAG/ACTTGC 1 -- int11Minor allele frequency- A:0.01NS 178
    rs1399754651,2
    --133208309(+) CAGCTC/TTGGGT 1 -- int10--------
    rs123669891,2
    H--133208316(+) GGGTCC/TTGGTC 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs57450371,2
    C,F,--133208345(-) AGGATG/AGGTCA 1 -- int12Minor allele frequency- A:0.02NS WA 296
    rs57450351,2
    C,--133208451(-) GGGGCA/G/TCTGGG 1 -- int11NS 178
    rs57450341,2
    C,F,--133208485(-) AGAGGC/TGCAGG 1 -- int13Minor allele frequency- T:0.04NS NA EA 414
    rs57450331,2
    C,F,--133208494(-) GGGCCG/ATTCAG 1 -- int14Minor allele frequency- A:0.06NS NA WA 416
    rs57450321,2
    C,F,A,--133208511(-) CGACCG/CGAGAA 1 -- int114Minor allele frequency- C:0.25NS NA WA CSA EA 686
    rs57450311,2
    C,F,A,--133208611(-) TATCAC/TGTCCC 1 -- int115Minor allele frequency- T:0.39NS NA WA CSA EA 683
    rs1431141851,2
    --133208667(+) GCACAC/TGCTGG 1 -- int10--------
    rs57450301,2
    C,F,--133208671(-) GGTGCC/TAGCGT 1 -- int18Minor allele frequency- T:0.02NS WA 962
    rs57450291,2
    C,F,--133208692(-) TACCTA/GCATGT 1 -- int15Minor allele frequency- G:0.05NS NA WA 422
    rs57450281,2
    C,F,A,--133208739(-) GATGTC/TAATGA 1 -- int118Minor allele frequency- T:0.39NS NA EA WA CSA 1053
    rs1466727761,2
    --133208789(+) ACATAC/TGCTAG 1 -- int10--------
    rs750763531,2
    --133208810(+) GTGCAC/TGCATT 1 -- int10--------
    rs57450271,2
    C,F,--133208836(-) TGTTA-/ACTGTG 1 -- int11Minor allele frequency- A:0.02NS 176
    rs1840797511,2
    --133208846(+) ATTCTC/TGCCTT 1 -- int10--------
    rs57450261,2
    C,H,--133208847(-) TAAGGC/TGAGAA 1 -- int15Minor allele frequency- T:0.00NS EA 564
    rs2005877011,2
    --133208862(+) TGTACA/GTTAGT 1 -- int10--------
    rs1997572291,2
    --133208869(+) TAGTGC/TCCTCT 1 -- int10--------
    rs57450251,2
    C,F,--133208882(-) CGTGCG/ATGTGA 1 -- int13Minor allele frequency- A:0.03NS CSA 174
    rs57450241,2
    C,F,A,H,--133208883(-) GCGTGC/TGTGTG 1 -- int13Minor allele frequency- T:0.04NS NA CSA 176
    rs57450231,2
    C,F,A,--133208886(-) CCAGCA/GTGCGT 1 -- int115Minor allele frequency- G:0.49NS NA WA CSA EA EU 1224
    rs2016568071,2
    --133208910(+) CACACA/GTATTT 2 Y syn10--------
    rs57450221,2
    C,F,A,H,--133208979(-) CTCTCG/AGAGAT 2 /S syn1 ese337Minor allele frequency- A:0.33NS NA EA WA CSA EU 9211
    rs589163991,2
    C,--133209065(+) ATTTGC/TGACAT 2 T A mis11Minor allele frequency- T:0.50WA 2
    rs1479546751,2
    C,--133209262(+) GGCTCC/TGACCG 2 R G mis11Minor allele frequency- T:0.00NA 4404
    rs57450211,2
    C,F,H,--133209267(-) GGGGGC/TGGTCG 2 A V mis1 ese34Minor allele frequency- T:0.01NS EA NA 322
    rs1815702741,2
    C,--133209274(+) CCCCTC/TGGCCT 2 K E mis10--------
    rs1154527691,2
    --133209337(+) ACTGCG/ACCTCA 2 /R /C mis11Minor allele frequency- A:0.01NA 214
    rs1469022141,2
    C,--133209380(+) ATGTAC/TGCTGT 2 A syn11Minor allele frequency- T:0.00NA 4498
    rs1860161271,2
    --133209553(+) TGAGAA/CGTGGA 1 -- int10--------
    rs57450201,2
    C,F,A,H,--133209593(-) TGACAG/ATGAAC 1 -- int127Minor allele frequency- A:0.28NS NA EA WA CSA 2668
    rs1393063381,2
    --133209637(+) TAAGCC/TTCTCA 1 -- int10--------
    rs57450191,2
    C,F,A,H,--133209653(-) TTCACA/GCGCTA 1 -- int112Minor allele frequency- G:0.24NS NA WA CSA EA 558
    rs57450181,2
    C,F,A,H,--133209660(-) GCTGTT/CTTTCA 1 -- int112Minor allele frequency- C:0.24NS NA WA CSA EA 558
    rs57450171,2
    C,--133209663(-) GGAGCT/AGTTTT 1 -- int11Minor allele frequency- A:0.01NS 180
    rs57450161,2
    C,F,A,H,--133209724(-) GGCCCA/GGAGTA 1 -- int114Minor allele frequency- G:0.24NS NA WA CSA EA 690
    rs2019049491,2
    --133209745(+) ACTTA-/CCCCTT 1 -- int10--------
    rs57450151,2
    C,F,A,H--133209749(-) AAAAAG/AGGGTA 1 -- int1 trp310Minor allele frequency- A:0.25NS NA WA 312
    rs57450141,2
    C--133209750(-) AAAAAA/GAGGGT 1 -- int1 trp31Minor allele frequency- G:0.01NS 178
    rs1165421911,2
    F,--133209798(+) AGACTG/ATAGTG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1470270221,2
    --133209899(+) TGTGCA/GCACCA 1 -- int10--------
    rs111469841,2
    C,--133209984(+) cctcaC/Tgtgat 1 -- int11Minor allele frequency- T:0.50NA 2
    rs57450131,2
    C,H,--133210140(-) ATGATC/AATTTT 1 -- int15Minor allele frequency- A:0.00NS EA 564
    rs1922707521,2
    --133210208(+) TTACTC/TAGGGC 1 -- int10--------
    rs57450121,2
    C,F,H,--133210255(-) GTATCG/AAGGAA 1 -- int15Minor allele frequency- A:0.01NS EA 584
    rs1425161141,2
    --133210385(+) GCTGAC/TCTGAC 1 -- int10--------
    rs1822251771,2
    --133210423(+) GTGCAA/CACACA 1 -- int10--------
    rs1860183291,2
    --133210427(+) ACACAC/TACAAA 1 -- int10--------
    rs415626171,2
    C--133210476(-) CTCCCA/GCCATC 1 -- int10--------
    rs1908400981,2
    --133210508(+) TGACAA/CGGCCA 1 -- int10--------
    rs57450091,2
    C,F,--133210522(-) GGAGCG/AGCTGC 1 -- int12Minor allele frequency- A:0.02NS CSA 180
    rs1825729691,2
    --133210530(+) TCCCCA/GTGGAG 1 -- int10--------
    rs57450081,2
    H--133210542(-) GCTCTC/GAGGAA 1 -- int15Minor allele frequency- G:0.00NS EA 596
    rs57450071,2
    C,F,--133210607(-) TCCAGG/TCTCCA 1 -- int17Minor allele frequency- T:0.03NS NA CSA WA 438
    rs1857395941,2
    --133210659(+) GCTCCA/GCCCGA 1 -- int10--------
    rs57450061,2
    C,F,--133210712(-) AGATGT/CGGCTC 1 -- int112Minor allele frequency- C:0.02NS NA CSA 976
    rs2021151161,2
    --133210729(+) CATGAA/GTCCCT 1 -- int10--------
    rs2015918571,2
    --133210761(+) TGGGCC/TCTGGG 1 -- int10--------
    rs74875951,2
    C,F,H--133210859(+) ATCCTC/ACACGT 2 /E /* stg1 ese39Minor allele frequency- A:0.01NS EA NA 960
    rs2004748621,2
    --133210875(+) TCCTCC/TGCCTC 2 A syn10--------
    rs2012734151,2
    --133210876(+) CCTCCA/GCCTCT 2 A V mis10--------
    rs1435032851,2
    C,--133210981(+) GAGACA/GACGCG 1 -- int10--------
    rs57450051,2
    C,F,A,H,--133210985(-) CAGCCA/GCGTTG 1 -- int123Minor allele frequency- G:0.35NS NA EA WA CSA EU 2439
    rs57450041,2
    H--133211059(-) GGCAGA/GTGGAC 1 -- int15Minor allele frequency- G:0.00NS EA 540
    rs1171928691,2
    F,--133211061(+) CCATCT/CGCCCC 1 -- int11Minor allele frequency- C:0.03EA 120
    rs57450031,2
    C,F,--133211087(-) ACTGCG/AAGGAA 1 -- int18Minor allele frequency- A:0.05NS NA WA 402
    rs787944241,2
    --133211257(+) AAGGAC/TGAAAG 1 -- int10--------
    rs1141342851,2
    --133211326(+) CGGCAC/TGACCC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1449700601,2
    --133211397(+) GTAGAC/TACCGA 1 -- int10--------
    rs1490618421,2
    --133211498(+) ATCCCC/TTCAAT 1 -- int10--------
    rs1466696961,2
    --133211547(+) TCCAGA/GTGTCC 1 -- int10--------
    rs1904085831,2
    --133211580(+) GCCAGC/TTCCCA 1 -- int10--------
    rs57450011,2
    C,F,A,H,--133211590(-) CAGACA/GCTTCT 1 -- int125Minor allele frequency- G:0.27NS EA NA WA CSA 2531
    rs57450001,2
    C,F,A,H,--133211597(-) AAGGAG/CGCAGA 1 -- int112Minor allele frequency- C:0.22NS NA WA CSA EA 553
    rs1830331241,2
    --133211672(+) ACTATA/GAGGGC 1 -- int10--------
    rs57449991,2
    C,F,A,--133211753(-) GAGACA/GTGGGT 1 -- int121Minor allele frequency- G:0.38NS NA WA CSA EA 1355
    rs57449981,2
    C,F,A,--133211791(-) GGTCAT/CGTCTG 1 -- int115Minor allele frequency- C:0.25NS NA WA CSA EA 694
    rs116113451,2
    H--133211808(+) CCAGAC/ATGCTC 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1876152291,2
    --133211882(+) CGCTGG/TCCCCT 1 -- int10--------
    rs57449971,2
    C,F,--133211912(-) AGGGCC/GTGGGT 1 -- int14Minor allele frequency- G:0.10NS WA NA 418
    rs57449961,2
    C,H,--133211951(-) CCTGTG/CTCAGG 1 -- int15Minor allele frequency- C:0.00NS EA 594
    rs1418411741,2
    --133211964(+) CTAACC/TGGCTT 1 -- int10--------
    rs1471211741,2
    --133211999(+) GGGTTA/TTCCAC 1 -- int10--------
    rs1480858591,2
    --133212152(+) TTTGCC/TTCCCT 1 -- int10--------
    rs57449951,2
    C,F,H,--133212165(-) GCGGAT/CGGACA 1 -- int117Minor allele frequency- C:0.07NS NA EA 1400
    rs57449941,2
    C,F,H,--133212168(-) CCAGCG/AGATGG 1 -- int115Minor allele frequency- A:0.01NS EA NA WA 1510
    rs1163978341,2
    F,--133212186(+) TTATGC/ATCGCA 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1932398701,2
    --133212265(+) GCCCAC/TGGCAA 1 -- int10--------
    rs1409577201,2
    --133212266(+) CCCACA/GGCAAG 1 -- int10--------
    rs1839547001,2
    --133212274(+) AAGCCA/TTGCCA 1 -- int10--------
    rs1152588221,2
    --133212281(+) GCCATC/GACCAG 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1130916591,2
    F--133212339(+) TCCCCG/ATGTTC 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs57449931,2
    C,F,A,H,--133212382(-) CTGGCC/TGTGAG