PRIM1
DNA primase subunit 1
Summary
The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1459585454 | 12:57,125,507 | C/A | — | uncertain significance |
| rs201428535 | 12:57,127,957 | C/T | — | uncertain significance |
| rs143246089 | 12:57,132,236 | C/T | — | likely benign |
| rs749641722 | 12:57,132,298 | C/T | — | likely benign |
| rs373368001 | 12:57,132,299 | G/A | — | uncertain significance |
| rs771826619 | 12:57,133,875 | G/A | — | likely benign |
| rs1953871835 | 12:57,135,300 | A/G | — | pathogenic |
| rs1953872046 | 12:57,135,328 | C/A | — | uncertain significance |
| rs2547881240 | 12:57,135,535 | A/C | — | uncertain significance |
| rs767876815 | 12:57,135,568 | G/A | — | uncertain significance |
| rs1487483670 | 12:57,137,813 | G/C | — | pathogenic |
| rs1186295300 | 12:57,137,858 | G/A | — | uncertain significance |
| rs755941027 | 12:57,137,895 | C/T | — | uncertain significance |
| rs1481850498 | 12:57,139,897 | C/T | — | likely benign |
| rs757181601 | 12:57,139,915 | C/T | — | uncertain significance |
| rs199856398 | 12:57,139,953 | A/C | — | uncertain significance |
| rs2547882672 | 12:57,140,579 | T/C | — | uncertain significance |
| rs201276969 | 12:57,140,729 | C/T | — | uncertain significance |
| rs1592338256 | 12:57,145,978 | A/C | — | likely pathogenic |
| rs762016916 | 12:57,145,979 | C/A | — | pathogenic |
| rs1592338276 | 12:57,145,985 | C/T | — | uncertain significance |
| rs764663169 | 12:57,146,003 | T/C | — | uncertain significance |
| rs377263967 | 12:57,146,012 | G/C | — | uncertain significance |
| rs2277339 | 12:57,146,069 | T/G | missense variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.