Polymerase (DNA-Directed), Delta 1, Catalytic Subunit

Alternative Names

  • POLD1
  • Polymerase, DNA, Delta
  • POLD
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OMIM Number

174761

NCBI Gene ID

5424

Uniprot ID

P28340

Length

33,815 bases

No. of Exons

30

No. of isoforms

1

Protein Name

DNA polymerase delta catalytic subunit

Molecular Mass

123631 Da

Amino Acid Count

1107

Genomic Location

chr19:50,384,204-50,418,018

Gene Map Locus
19q13.33

Description

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002691.4:c.2257T>CLebanonchr19:50413748Uncertain SignificanceBreast CancerNG_033800.1:g.34426T>C; NM_002691.4:c.2257T>C; NP_002682.2:p.Tyr753His
NM_002691.4:c.2793G>CLebanonNC_000019.10:g.50415799G>CUncertain SignificanceBreast CancerNG_033800.1:g.36477G>C; NM_002691.4:c.2793G>C; NP_002682.2:p.Lys931Asn2039265074
NM_002691.4:c.519C>GLebanonchr19:50402054Uncertain SignificanceBreast CancerNG_033800.1:g.22732C>G; NM_002691.4:c.519C>G; NP_002682.2:p.Ser173Arg1555789901469359
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