PRTFDC1
phosphoribosyl transferase domain containing 1
Summary
Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757699463 | 10:25,138,780 | C/T | — | uncertain significance |
| rs146174646 | 10:25,138,783 | T/C | — | uncertain significance |
| rs762042745 | 10:25,140,371 | G/T | — | uncertain significance |
| rs765563550 | 10:25,140,373 | T/C | — | likely benign |
| rs377324304 | 10:25,144,285 | A/G | — | uncertain significance |
| rs111639291 | 10:25,145,866 | T/C | — | uncertain significance |
| rs145142862 | 10:25,145,915 | C/T | — | uncertain significance |
| rs199983667 | 10:25,147,326 | C/A | — | uncertain significance |
| rs11014271 | 10:25,160,502 | C/T | downstream gene variant | — |
| rs750556528 | 10:25,160,959 | C/T | — | uncertain significance |
| rs142405158 | 10:25,160,975 | A/G | — | benign |
| rs72780350 | 10:25,163,839 | G/A | intron variant | — |
| rs7394259 | 10:25,166,828 | G/A | intron variant | — |
| rs11014296 | 10:25,202,038 | C/T | upstream gene variant | — |
| rs10828723 | 10:25,205,058 | T/C | intron variant | — |
| rs12266014 | 10:25,211,291 | C/T | intron variant | — |
| rs6482463 | 10:25,213,128 | G/A | intron variant | — |
| rs9804265 | 10:25,214,050 | A/C | intron variant | — |
| rs112955547 | 10:25,217,783 | G/A | intron variant | — |
| rs7914847 | 10:25,220,499 | G/A | intron variant | — |
| rs11014306 | 10:25,224,462 | T/C | regulatory region variant | — |
| rs367876185 | 10:25,226,262 | T/C | — | uncertain significance |
| rs982232351 | 10:25,226,291 | T/C | — | uncertain significance |
| rs1474775371 | 10:25,231,268 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.