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See other POLE CNV Assays ›
Gene Symbol
POLE
Assay Reference Genome
Location

Chr.12:132639283 on build GRCh38
Cytoband
12q24.33
Assay ID Hs00865288_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

Overlaps Intron 41 - Exon 42
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
POLE NM_006231.3 NP_006222.2
XM_011534795.2 XP_011533097.1
XM_011534797.2 XP_011533099.1
XM_011534798.1 XP_011533100.1
XM_011534802.2 XP_011533104.1
AK093003.1
BC007599.1 AAH07599.1
BC087613.1 AAH87613.1
BX647647.1
L09561.1 AAC19148.1
S60080.1 AAA15448.1
U49356.1 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 PXMP2 LOC100996573 P2RX2 GALNT9 PGAM5 LOC100130238 MIR6763 FBRSL1 LRCOL1 LOC101928416 LOC105370092 MUC8 POLE
esv2422284 Chr.12:132604248 - 132708921 on Build GRCh38 Deletion LRCOL1 PXMP2 P2RX2 POLE
nsv1037074 Chr.12:132613063 - 132801953 on Build GRCh38 Gain GOLGA3 PXMP2 ANKLE2 P2RX2 PGAM5 POLE

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More Information


Set Membership:

Intragenic Non-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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