PRPSAP1
phosphoribosyl pyrophosphate synthetase associated protein 1
Summary
Enables identical protein binding activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775714352 | 17:74,307,645 | C/T | — | uncertain significance |
| rs768917584 | 17:74,308,958 | A/G | — | uncertain significance |
| rs776866780 | 17:74,308,959 | C/A | — | uncertain significance |
| rs547785106 | 17:74,309,089 | A/C | — | uncertain significance |
| rs145998624 | 17:74,319,057 | G/C | upstream gene variant | — |
| rs747800818 | 17:74,324,840 | T/C | — | uncertain significance |
| rs774132458 | 17:74,324,855 | G/A | — | uncertain significance |
| rs766959868 | 17:74,324,878 | G/A | — | uncertain significance |
| rs2510114770 | 17:74,324,911 | C/T | — | uncertain significance |
| rs2071304441 | 17:74,326,143 | A/G | — | uncertain significance |
| rs2510115956 | 17:74,326,149 | C/G | — | uncertain significance |
| rs370484277 | 17:74,326,688 | A/G | — | uncertain significance |
| rs752675736 | 17:74,328,349 | T/C | — | uncertain significance |
| rs1803757 | 17:74,328,353 | C/T | — | uncertain significance |
| rs1211427847 | 17:74,328,393 | C/A | — | uncertain significance |
| rs7503030 | 17:74,329,483 | A/G | upstream gene variant | — |
| rs188776976 | 17:74,348,067 | G/A | regulatory region variant | — |
| rs1443844622 | 17:74,349,618 | G/T | — | uncertain significance |
| rs2510128684 | 17:74,349,643 | A/C | — | uncertain significance |
| rs965558275 | 17:74,349,705 | G/C | — | likely benign |
| rs752382509 | 17:74,349,715 | G/C | — | uncertain significance |
| rs748332694 | 17:74,349,753 | G/A | — | likely benign |
| rs551696186 | 17:74,349,778 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.