rs147850084

This variant is located in the POLD3 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters1 publication

not specified; not provided; Alkaline phosphatase, plasma level of, quantitative trait locus 2

About POLD3

This gene encodes the 66-kDa 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. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

View all POLD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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