UPP1
uridine phosphorylase 1
Summary
This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7794100 | 7:48,127,445 | A/C | upstream gene variant | — |
| rs7458962 | 7:48,128,558 | A/C | — | — |
| rs3763505 | 7:48,128,850 | G/A | regulatory region variant | — |
| rs3752889 | 7:48,129,371 | C/G | regulatory region variant | — |
| rs13227958 | 7:48,131,580 | T/G | — | — |
| rs758600283 | 7:48,141,538 | C/T | — | likely benign |
| rs6463462 | 7:48,142,194 | G/T | regulatory region variant | — |
| rs201545473 | 7:48,142,987 | A/T | — | uncertain significance |
| rs2230761 | 7:48,146,639 | A/G | — | benign |
| rs146983910 | 7:48,146,674 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.