POLA2 Chromosome 11

DNA polymerase alpha 2, accessory subunit
2 variants 2 Health Risk

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What This Gene Does
Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in ciliary basal body; cytosol; and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000014138
Associated Conditions (1)
Telomere Biology Disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1329580446 Health Risk Conflicting classifications of pathogenicity Telomere Biology Disorder, Telomere Biology Disorder
RS777941351 Health Risk Likely pathogenic Telomere Biology Disorder, Telomere Biology Disorder
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