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          • Home
          • › Search Tool
          • › Search Results
          • › Hs01636684_cn
          See other POLE CNV Assays ›
          Gene Symbol
          POLE
          Assay Reference Genome
          Location

          Chr.12:132624512 on build GRCh38
          Cytoband
          12q24.33
          Assay ID Hs01636684_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your 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 52
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          POLE NM_006231.3 49 7255 NP_006222.2
          AF128544.1 1 188
          AK025087.1 8 1328 BAB15063.1
          AK093003.1 12 2248
          AK128248.1 2 1346
          AL080203.1 5 849 CAB45774.1
          BC007599.1 15 2581 AAH07599.1
          BC021559.1 10 1560 AAH21559.1
          BC087613.1 15 2581 AAH87613.1
          BX647647.1 23 4700

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv952512 Chr.12:132192256 - 132711214 on Build GRCh38 Deletion LOC101928416 FBRSL1 PGAM5 LRCOL1 PXMP2 LOC105370092 POLE LOC100130238 MIR6763 P2RX2 GALNT9 LOC100996573 MUC8
          nsv561109 Chr.12:132618549 - 132626173 on Build GRCh38 Loss POLE P2RX2
          esv2422284 Chr.12:132604248 - 132708921 on Build GRCh38 Deletion POLE LRCOL1 PXMP2 P2RX2
          nsv1037074 Chr.12:132613063 - 132801953 on Build GRCh38 Gain GOLGA3 POLE PGAM5 PXMP2 ANKLE2 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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