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.