DCTPP1
dCTP pyrophosphatase 1
Summary
The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146094440 | 16:30,435,601 | C/G | missense variant | — |
| rs148153979 | 16:30,435,645 | T/A | — | uncertain significance |
| rs985136446 | 16:30,435,663 | C/T | — | uncertain significance |
| rs1010468456 | 16:30,435,664 | G/A | — | uncertain significance |
| rs373815836 | 16:30,435,735 | C/T | — | likely benign |
| rs2543970254 | 16:30,435,756 | A/G | — | uncertain significance |
| rs1206708246 | 16:30,435,781 | G/A | — | uncertain significance |
| rs1401049051 | 16:30,435,801 | C/T | — | uncertain significance |
| rs780869586 | 16:30,435,811 | G/T | — | uncertain significance |
| rs374212967 | 16:30,435,829 | C/T | — | uncertain significance |
| rs546895092 | 16:30,435,841 | C/T | — | uncertain significance |
| rs781610165 | 16:30,441,238 | G/A | — | uncertain significance |
| rs965450062 | 16:30,441,258 | T/G | — | uncertain significance |
| rs201197422 | 16:30,441,265 | C/A | — | uncertain significance |
| rs773060140 | 16:30,441,280 | T/A | — | uncertain significance |
| rs754320814 | 16:30,441,297 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.