CA6
carbonic anhydrase 6
Summary
The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11809994 | 1:9,005,269 | A/C | upstream gene variant | — |
| rs763221471 | 1:9,005,965 | T/C | — | uncertain significance |
| rs767657189 | 1:9,005,985 | G/A | — | uncertain significance |
| rs72641551 | 1:9,008,099 | T/G | intron variant | — |
| rs1472002957 | 1:9,009,382 | A/G | — | uncertain significance |
| rs375530876 | 1:9,009,393 | A/G | — | likely benign |
| rs2274327 | 1:9,009,406 | C/G | missense variant | — |
| rs200886584 | 1:9,009,411 | G/T | — | uncertain significance |
| rs58800854 | 1:9,009,414 | C/A | synonymous variant | — |
| rs753185301 | 1:9,009,418 | A/G | — | uncertain significance |
| rs2274328 | 1:9,009,444 | A/C | missense variant | — |
| rs2274329 | 1:9,009,451 | G/A | missense variant | — |
| rs61746465 | 1:9,009,452 | C/T | — | benign |
| rs2274330 | 1:9,009,470 | G/C | synonymous variant | — |
| rs11121277 | 1:9,010,807 | G/T | intron variant | — |
| rs372815188 | 1:9,012,745 | G/A | — | — |
| rs2274333 | 1:9,017,204 | A/G | missense variant | — |
| rs779324859 | 1:9,017,265 | T/A | — | uncertain significance |
| rs199988726 | 1:9,017,273 | C/T | — | uncertain significance |
| rs868621242 | 1:9,017,318 | G/A | — | uncertain significance |
| rs149426347 | 1:9,018,981 | C/A | — | uncertain significance |
| rs761331153 | 1:9,019,041 | G/A | — | uncertain significance |
| rs140314132 | 1:9,027,747 | G/A | — | likely benign |
| rs747994768 | 1:9,027,828 | G/A | — | uncertain significance |
| rs1356682563 | 1:9,027,873 | C/G | — | uncertain significance |
| rs71641068 | 1:9,028,901 | C/G | — | — |
| rs1261100664 | 1:9,030,926 | G/T | — | uncertain significance |
| rs1281120110 | 1:9,031,002 | T/C | — | uncertain significance |
| rs764238187 | 1:9,034,686 | A/G | — | uncertain significance |
| rs36181061 | 1:9,034,733 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.