NIT1
nitrilase 1
Summary
This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185780451 | 1:161,087,939 | C/T | regulatory region variant | — |
| rs76502631 | 1:161,088,000 | G/A | regulatory region variant | — |
| rs1655103833 | 1:161,088,640 | C/T | — | uncertain significance |
| rs747236058 | 1:161,088,655 | C/T | — | uncertain significance |
| rs147305024 | 1:161,088,668 | C/T | — | uncertain significance |
| rs144963228 | 1:161,088,936 | G/A | — | uncertain significance |
| rs768683711 | 1:161,088,979 | T/A | — | uncertain significance |
| rs1258515918 | 1:161,089,040 | G/A | — | uncertain significance |
| rs2524878215 | 1:161,089,045 | G/C | — | uncertain significance |
| rs373270446 | 1:161,089,118 | C/T | — | uncertain significance |
| rs375837491 | 1:161,089,651 | T/G | — | uncertain significance |
| rs2524888909 | 1:161,089,659 | C/T | — | uncertain significance |
| rs2524889222 | 1:161,089,680 | G/C | — | uncertain significance |
| rs1315826766 | 1:161,089,699 | C/T | — | uncertain significance |
| rs144821669 | 1:161,089,997 | C/G | — | uncertain significance |
| rs144065383 | 1:161,090,298 | C/T | — | uncertain significance |
| rs148237758 | 1:161,090,313 | G/A | — | uncertain significance |
| rs184919184 | 1:161,090,345 | G/T | — | uncertain significance |
| rs772746414 | 1:161,090,390 | G/A | — | uncertain significance |
| rs753105093 | 1:161,090,394 | G/C | — | uncertain significance |
| rs962328125 | 1:161,090,446 | G/A | — | uncertain significance |
| rs532171421 | 1:161,090,491 | A/G | — | uncertain significance |
| rs200668987 | 1:161,090,511 | C/T | — | uncertain significance |
| rs761471860 | 1:161,090,512 | G/A | — | uncertain significance |
| rs765742286 | 1:161,090,516 | G/T | — | uncertain significance |
| rs376379316 | 1:161,090,539 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.