SLC4A10

solute carrier family 4 member 10

Summary

This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]

Known Variants92 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1051775487	2:162,481,035	A/G	—	uncertain significance
rs2031860777	2:162,481,044	C/T	—	uncertain significance
rs16846051	2:162,565,325	T/G	—	benign
rs62189006	2:162,573,586	A/G	intron variant	—
rs79624795	2:162,592,871	G/T	intron variant	—
rs191005728	2:162,627,509	T/C	—	likely benign
rs914673973	2:162,627,534	A/C	—	uncertain significance
rs2469169036	2:162,627,565	G/A	—	uncertain significance
rs180807169	2:162,653,686	G/A	intron variant	—
rs770073010	2:162,661,010	G/C	—	uncertain significance
rs1038439527	2:162,661,019	G/A	—	uncertain significance
rs2469502942	2:162,661,039	A/G	—	uncertain significance
rs2469503289	2:162,661,066	G/A	—	uncertain significance
rs72879226	2:162,687,168	T/A	intron variant	—
rs2469892999	2:162,696,328	C/T	—	uncertain significance
rs2469893487	2:162,696,356	A/G	—	uncertain significance
rs929159822	2:162,696,358	A/G	—	uncertain significance
rs2469893610	2:162,696,362	C/A	—	uncertain significance
rs2084543	2:162,696,414	C/T	—	benign
rs576078171	2:162,703,887	G/A	—	—
rs754880370	2:162,711,596	C/G	—	uncertain significance
rs780189691	2:162,719,450	A/G	—	uncertain significance
rs747266395	2:162,719,452	G/A	—	uncertain significance
rs2060516867	2:162,719,464	C/T	—	uncertain significance
rs1223068536	2:162,719,473	C/T	—	pathogenic
rs2470108722	2:162,719,488	A/T	—	uncertain significance
rs2061179032	2:162,728,829	G/C	—	uncertain significance
rs535560207	2:162,728,832	C/T	—	uncertain significance
rs752869470	2:162,728,895	G/C	—	likely pathogenic
rs181577709	2:162,730,442	A/T	—	likely benign
rs1221997073	2:162,730,449	G/A	—	uncertain significance
rs2061603947	2:162,735,671	C/G	—	uncertain significance
rs1575417532	2:162,735,672	C/T	—	uncertain significance
rs763437005	2:162,735,723	G/A	—	uncertain significance
rs2470273914	2:162,735,744	G/C	—	pathogenic
rs1553605433	2:162,735,782	G/A	—	uncertain significance
rs2470314317	2:162,738,871	T/G	—	uncertain significance
rs756102275	2:162,751,227	T/G	—	uncertain significance
rs1276917826	2:162,757,436	C/A	—	uncertain significance
rs575906578	2:162,757,481	C/A	—	uncertain significance
rs61748242	2:162,760,646	C/A	—	likely benign
rs751709773	2:162,760,683	C/T	—	uncertain significance
rs2470633684	2:162,761,287	G/A	—	uncertain significance
rs180812489	2:162,761,303	C/T	—	likely benign
rs199634510	2:162,761,304	T/G	—	uncertain significance
rs2470634489	2:162,761,323	G/T	—	uncertain significance
rs2470634767	2:162,761,332	A/G	—	uncertain significance
rs2470635695	2:162,761,398	A/T	—	no classification for the single variant
rs370148354	2:162,762,264	C/T	—	pathogenic
rs61761953	2:162,762,296	T/C	—	likely benign
rs773500702	2:162,762,396	T/C	—	uncertain significance
rs2467975922	2:162,799,326	T/G	—	uncertain significance
rs199725063	2:162,799,327	C/A	—	uncertain significance
rs1458349611	2:162,799,397	T/C	—	uncertain significance
rs1435419738	2:162,799,406	C/T	—	uncertain significance
rs11693702	2:162,802,184	T/C	—	—
rs369971543	2:162,804,090	G/T	—	uncertain significance
rs768080951	2:162,804,103	G/A	—	uncertain significance
rs148092998	2:162,804,110	G/A	—	uncertain significance
rs1694065388	2:162,804,134	A/G	—	pathogenic
rs753956303	2:162,804,163	A/G	—	uncertain significance
rs141829716	2:162,804,198	C/T	—	benign
rs2468026919	2:162,804,212	A/G	—	uncertain significance
rs780100872	2:162,804,215	C/G	—	uncertain significance
rs1694347562	2:162,805,661	C/T	—	pathogenic
rs1238896846	2:162,805,706	A/G	—	uncertain significance
rs201351567	2:162,805,760	A/G	—	uncertain significance
rs1445215746	2:162,813,576	G/A	—	likely pathogenic
rs373234260	2:162,813,609	T/C	—	likely benign
rs2468112175	2:162,813,667	C/T	—	uncertain significance
rs61752557	2:162,813,669	C/T	—	benign
rs12466127	2:162,815,262	C/G	—	—
rs12472555	2:162,816,728	T/G	intron variant	—
rs2468188834	2:162,820,643	A/C	—	pathogenic
rs1283303387	2:162,820,655	G/A	—	uncertain significance
rs2468189413	2:162,820,676	C/T	—	pathogenic
rs1261623503	2:162,820,809	T/C	—	likely benign
rs150202067	2:162,821,374	G/A	intron variant	—
rs61748243	2:162,821,644	C/T	—	benign
rs1254693801	2:162,821,645	G/A	—	uncertain significance
rs142943771	2:162,830,765	C/G	—	uncertain significance
rs779428686	2:162,830,782	G/A	—	uncertain significance
rs201485344	2:162,830,822	T/A	—	uncertain significance
rs4340536	2:162,831,693	C/T	—	—
rs2468311313	2:162,833,278	C/A	—	uncertain significance
rs1699446557	2:162,833,292	A/G	—	uncertain significance
rs375704779	2:162,833,307	T/C	—	uncertain significance
rs766757048	2:162,833,316	G/A	—	uncertain significance
rs748992896	2:162,833,345	C/T	—	likely benign
rs2468312940	2:162,833,350	A/T	—	no classification for the single variant
rs2468324057	2:162,834,232	C/A	—	uncertain significance
rs1699607498	2:162,834,237	C/T	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.