PRPS2
phosphoribosyl pyrophosphate synthetase 2
Summary
This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2519930787 | X:12,809,721 | C/A | — | uncertain significance |
| rs748027898 | X:12,817,515 | A/G | — | likely benign |
| rs752956171 | X:12,837,706 | G/A | — | uncertain significance |
| rs139259639 | X:12,837,780 | A/G | — | uncertain significance |
| rs747953638 | X:12,838,812 | A/C | — | uncertain significance |
| rs6641111 | X:12,839,790 | C/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.