POLD1

DNA polymerase delta 1, catalytic subunit

Summary

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. [provided by RefSeq, Mar 2012]

Known Variants3,186 total

rsidPosition (GRCh37)AllelesClassClinVar
rs105267719:50,886,181C/T——
rs321928119:50,887,087C/Tregulatory region variant—
rs321928319:50,887,357C/G—likely benign
rs5563497319:50,887,382G/A—likely benign
rs321928419:50,887,468C/G—likely benign
rs201344719:50,887,473G/A—benign
rs57603589919:50,887,601G/A—likely benign
rs105752132319:50,887,617A/G—likely benign
rs105752198419:50,887,618G/A—likely benign
rs95796126019:50,887,626C/T—uncertain significance
rs155578676319:50,887,644G/C—uncertain significance
rs106479487519:50,887,648G/C—uncertain significance
rs105752400919:50,887,659G/A—likely benign
rs123304867419:50,887,663A/G—likely benign
rs97049506619:50,887,666G/A—likely benign
rs321928619:50,887,694G/C—benign
rs321928719:50,887,723A/G—likely benign
rs321936219:50,901,852A/G—likely benign
rs167302619:50,901,893G/A—benign
rs321936419:50,902,064T/C—benign
rs37576035219:50,902,079C/A—likely benign
rs77833838319:50,902,096C/T—uncertain significance
rs105752394219:50,902,101C/T—likely benign
rs105752129119:50,902,103A/T—conflicting classifications of pathogenicity
rs75802073519:50,902,104G/C—likely benign
rs125484540519:50,902,106A/C—uncertain significance
rs131287654719:50,902,108G/A—uncertain significance
rs203846755219:50,902,109A/G—uncertain significance
rs105751759419:50,902,110T/A—uncertain significance
rs203846781919:50,902,112G/C—uncertain significance
rs212219346319:50,902,113A/G—uncertain significance
rs203846792019:50,902,116G/A—uncertain significance
rs106050182619:50,902,117C/T—likely benign
rs203846812519:50,902,118A/C—uncertain significance
rs212219360719:50,902,119A/C—uncertain significance
rs928283019:50,902,121C/T—conflicting classifications of pathogenicity
rs74847129719:50,902,122G/A—conflicting classifications of pathogenicity
rs105752346419:50,902,123G/A—conflicting classifications of pathogenicity
rs5595563819:50,902,124C/T—conflicting classifications of pathogenicity
rs77827583119:50,902,125G/A—conflicting classifications of pathogenicity
rs212219384719:50,902,127C/T—benign
rs203846904019:50,902,128C/A—conflicting classifications of pathogenicity
rs160118851719:50,902,129A/G—likely benign
rs118740618119:50,902,130G/A—uncertain significance
rs251393202119:50,902,131G/C—uncertain significance
rs37588664219:50,902,132C/T—likely benign
rs251393203119:50,902,133C/T—uncertain significance
rs155578902519:50,902,134C/T—uncertain significance
rs36915920219:50,902,135A/G—likely benign
rs203846959819:50,902,136G/A—uncertain significance
rs251393208419:50,902,137G/T—uncertain significance
rs212219410819:50,902,139C/T—uncertain significance
rs321876819:50,902,141C/T—benign
rs77219766719:50,902,142G/A—conflicting classifications of pathogenicity
rs138901818119:50,902,143G/A—conflicting classifications of pathogenicity
rs77571732819:50,902,144G/A—conflicting classifications of pathogenicity
rs76088457319:50,902,145G/A—conflicting classifications of pathogenicity
rs212219434419:50,902,147G/T—likely benign
rs140259831619:50,902,148C/T—uncertain significance
rs212219440319:50,902,149C/A—uncertain significance
rs251393226919:50,902,151C/T—uncertain significance
rs160118865519:50,902,152C/T—uncertain significance
rs76178389219:50,902,153A/G—likely benign
rs76518564519:50,902,154A/G—conflicting classifications of pathogenicity
rs251393232819:50,902,155A/C—uncertain significance
rs57046154519:50,902,157C/T—conflicting classifications of pathogenicity
rs37363756619:50,902,158G/A—conflicting classifications of pathogenicity
rs77957590119:50,902,159G/A—likely benign
rs156861468019:50,902,160G/A—uncertain significance
rs212219474019:50,902,161C/T—uncertain significance
rs251393241519:50,902,162C/A—likely benign
rs36803386019:50,902,163C/T—conflicting classifications of pathogenicity
rs321877319:50,902,164G/T—conflicting classifications of pathogenicity
rs141549979119:50,902,165T/C—likely benign
rs160118878919:50,902,166G/A—conflicting classifications of pathogenicity
rs77832922519:50,902,167G/A—uncertain significance
rs212219493219:50,902,168G/T—likely benign
rs928283119:50,902,169G/T—uncertain significance
rs77137190019:50,902,170G/T—uncertain significance
rs212219502019:50,902,171C/T—likely benign
rs77941826819:50,902,172C/T—conflicting classifications of pathogenicity
rs74594125119:50,902,174C/T—likely benign
rs118979300419:50,902,175T/C—uncertain significance
rs203847355519:50,902,177G/A—uncertain significance
rs124682806919:50,902,178G/A—uncertain significance
rs142625375019:50,902,181G/A—conflicting classifications of pathogenicity
rs212219528319:50,902,182A/G—uncertain significance
rs101566350319:50,902,183T/C—likely benign
rs76093985419:50,902,185A/G—uncertain significance
rs212219538819:50,902,186T/C—likely benign
rs15006695019:50,902,188A/T—conflicting classifications of pathogenicity
rs251393269519:50,902,189T/C—likely benign
rs76509715819:50,902,191C/T—uncertain significance
rs156861479919:50,902,192A/G—likely benign
rs75030399519:50,902,193C/T—uncertain significance
rs321877219:50,902,196C/T—likely benign
rs76596948119:50,902,197G/A—conflicting classifications of pathogenicity
rs251393276019:50,902,199C/T—uncertain significance
rs203847570519:50,902,200C/T—uncertain significance
rs134300496919:50,902,201A/G—likely benign

Showing 100 of 3,186 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.