GMPR
guanosine monophosphate reductase
Summary
This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753381835 | 6:16,238,931 | C/G | — | uncertain significance |
| rs2532369488 | 6:16,238,960 | C/A | — | uncertain significance |
| rs923354191 | 6:16,238,980 | C/T | — | uncertain significance |
| rs149627498 | 6:16,247,181 | G/A | — | uncertain significance |
| rs747349583 | 6:16,250,554 | G/A | — | uncertain significance |
| rs1343504419 | 6:16,250,579 | A/C | — | uncertain significance |
| rs371116639 | 6:16,254,802 | G/A | — | uncertain significance |
| rs1240671486 | 6:16,254,832 | G/A | — | uncertain significance |
| rs1305822472 | 6:16,254,856 | G/T | — | uncertain significance |
| rs375604923 | 6:16,254,938 | G/A | — | uncertain significance |
| rs369120972 | 6:16,254,961 | A/G | — | uncertain significance |
| rs10484358 | 6:16,256,043 | G/T | intron variant | — |
| rs1293514950 | 6:16,267,458 | T/C | — | — |
| rs1218372872 | 6:16,267,463 | T/C | — | — |
| rs9383146 | 6:16,267,475 | C/T | regulatory region variant | — |
| rs114417367 | 6:16,274,654 | C/T | — | benign |
| rs1244763154 | 6:16,274,710 | A/G | — | uncertain significance |
| rs1337907958 | 6:16,279,104 | A/G | — | uncertain significance |
| rs1266755991 | 6:16,279,116 | A/G | — | uncertain significance |
| rs146771786 | 6:16,286,061 | C/A | missense variant | — |
| rs2480548177 | 6:16,286,064 | T/G | — | uncertain significance |
| rs750470275 | 6:16,287,611 | G/A | — | — |
| rs6459467 | 6:16,288,192 | G/A | intron variant | — |
| rs2327958 | 6:16,288,615 | A/G | intron variant | — |
| rs116633477 | 6:16,290,742 | G/A | — | benign |
| rs1042391 | 6:16,290,761 | T/A | missense variant | benign |
| rs141401052 | 6:16,290,773 | G/A | — | uncertain significance |
| rs765475058 | 6:16,290,781 | G/C | — | uncertain significance |
| rs79626813 | 6:16,292,714 | G/T | intron variant | — |
| rs7765828 | 6:16,294,722 | C/G | downstream gene variant | — |
| rs551625171 | 6:16,295,237 | A/T | — | uncertain significance |
| rs2480567120 | 6:16,295,247 | G/C | — | uncertain significance |
| rs78806162 | 6:16,295,278 | A/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.