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          • Home
          • › Search Tool
          • › Search Results
          • › Hs00148395_cn
          See other POLE CNV Assays ›
          Gene Symbol
          POLE
          Assay Reference Genome
          Location

          Chr.12:132638057 on build GRCh38
          Cytoband
          12q24.33
          Assay ID Hs00148395_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          5426

          Gene Name:

          DNA polymerase epsilon, catalytic subunit

          Gene Aliases:

          CRCS12, FILS, POLE1

          Location:

          Chr.12:132623762-132687524 on Build GRCh38

          Assay Gene Location:

          Within Exon 43
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          POLE NM_006231.3 41 5844 NP_006222.2
          XM_011534795.2 41 5839 XP_011533097.1
          XM_011534797.2 33 4808 XP_011533099.1
          XM_011534798.1 29 4360 XP_011533100.1
          XM_011534802.2 17 2661 XP_011533104.1
          AK093003.1 3 865
          BC007599.1 7 1170 AAH07599.1
          BC021559.1 2 149 AAH21559.1
          BC087613.1 7 1170 AAH87613.1
          BX647647.1 15 3289
          L09561.1 41 5679 AAC19148.1
          S60080.1 40 5561 AAA15448.1
          U49356.1 41 5632 AAA90924.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv561110 Chr.12:132630826 - 132677497 on Build GRCh38 Loss POLE
          nsv952512 Chr.12:132192256 - 132711214 on Build GRCh38 Deletion FBRSL1 PGAM5 LRCOL1 LOC101928416 POLE LOC105370092 MUC8 PXMP2 GALNT9 LOC100130238 LOC100996573 MIR6763 P2RX2
          esv2422284 Chr.12:132604248 - 132708921 on Build GRCh38 Deletion PXMP2 LRCOL1 POLE P2RX2
          nsv1037074 Chr.12:132613063 - 132801953 on Build GRCh38 Gain GOLGA3 PXMP2 PGAM5 ANKLE2 POLE P2RX2

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          DNA metabolism protein

          Gene Ontology Categories:

          Function(s) Process(es)

          G1/S transition of mitotic cell cycle
          telomere maintenance via recombination
          DNA synthesis involved in DNA repair
          DNA replication
          DNA replication initiation
          base-excision repair, gap-filling
          nucleotide-excision repair, DNA gap filling
          embryonic organ development
          nucleic acid phosphodiester bond hydrolysis
          nucleotide binding
          DNA binding
          chromatin binding
          DNA-directed DNA polymerase activity
          zinc ion binding
          3'-5' exonuclease activity
          4 iron, 4 sulfur cluster binding

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