CHRNA3

cholinergic receptor nicotinic alpha 3 subunit

Summary

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

Known Variants101 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2053051171	15:78,886,147	T/C	—	uncertain significance
rs8192482	15:78,886,198	C/T	downstream gene variant	—
rs4887067	15:78,886,947	G/A	downstream gene variant	—
rs660652	15:78,887,832	A/G	downstream gene variant	—
rs578776	15:78,888,400	G/A	downstream gene variant	—
rs2141319077	15:78,888,971	G/A	—	uncertain significance
rs139522829	15:78,888,976	C/T	—	likely benign
rs201438830	15:78,888,986	C/G	—	uncertain significance
rs774559139	15:78,888,992	G/A	—	uncertain significance
rs772596477	15:78,889,005	A/T	—	uncertain significance
rs201426786	15:78,889,034	C/T	—	uncertain significance
rs751042207	15:78,889,035	G/T	—	uncertain significance
rs12910984	15:78,891,627	G/A	downstream gene variant	—
rs186011389	15:78,893,601	G/A	—	benign
rs200681637	15:78,893,632	A/G	—	likely benign
rs888723560	15:78,893,637	C/T	—	likely benign
rs150645787	15:78,893,652	G/A	—	likely benign
rs201578163	15:78,893,725	G/A	—	likely benign
rs74381441	15:78,893,741	A/C	—	benign
rs56403513	15:78,893,787	G/A	—	likely benign
rs147763776	15:78,893,815	C/G	—	uncertain significance
rs71581734	15:78,893,821	G/A	—	likely benign
rs141141954	15:78,893,864	C/T	—	likely benign
rs769886070	15:78,893,871	G/C	—	likely benign
rs71581739	15:78,893,872	G/A	—	benign
rs369192242	15:78,893,877	C/T	—	likely benign
rs2141325372	15:78,893,885	G/A	—	likely pathogenic
rs2542811164	15:78,893,887	G/A	—	uncertain significance
rs148001814	15:78,893,894	C/G	—	uncertain significance
rs968965351	15:78,893,927	C/T	—	uncertain significance
rs200551904	15:78,893,965	G/C	—	pathogenic
rs79115483	15:78,893,983	G/T	—	uncertain significance
rs138969500	15:78,893,985	C/T	—	likely benign
rs199707181	15:78,894,003	G/A	—	likely benign
rs200337870	15:78,894,012	G/A	—	likely benign
rs142201786	15:78,894,026	C/T	—	uncertain significance
rs747958062	15:78,894,027	G/A	—	likely benign
rs1227153576	15:78,894,030	G/A	—	likely benign
rs2542811841	15:78,894,048	C/T	—	uncertain significance
rs755771457	15:78,894,117	C/T	—	conflicting classifications of pathogenicity
rs139427736	15:78,894,177	G/A	—	likely benign
rs759677807	15:78,894,221	T/C	—	uncertain significance
rs1476174487	15:78,894,232	G/C	—	uncertain significance
rs777582527	15:78,894,296	C/T	—	uncertain significance
rs775689954	15:78,894,331	T/A	—	uncertain significance
rs72650603	15:78,894,335	G/A	—	uncertain significance
rs1051730	15:78,894,339	G/A	synonymous variant	risk factor
rs55958820	15:78,894,357	G/T	—	benign
rs1012439879	15:78,894,369	G/A	—	likely benign
rs768795101	15:78,894,407	C/T	—	uncertain significance
rs8192481	15:78,894,408	G/A	—	likely benign
rs8192480	15:78,894,420	A/G	—	likely benign
rs200795919	15:78,894,430	G/A	—	uncertain significance
rs143083384	15:78,894,513	G/A	—	likely benign
rs202207061	15:78,894,525	G/A	—	likely benign
rs542582690	15:78,894,624	G/T	—	likely benign
rs3743078	15:78,894,759	C/A	—	—
rs3743077	15:78,894,896	C/T	intron variant	—
rs1317286	15:78,896,129	A/G	intron variant	—
rs938682	15:78,896,547	G/A	intron variant	—
rs12914385	15:78,898,723	C/G	—	—
rs55676755	15:78,898,932	C/G	intron variant	—
rs7183604	15:78,899,213	T/C	intron variant	—
rs11637630	15:78,899,719	G/A	intron variant	—
rs112878080	15:78,900,647	A/G	intron variant	—
rs111704647	15:78,900,650	C/G	—	—
rs138544659	15:78,900,701	T/G	intron variant	—
rs147144681	15:78,900,908	C/T	intron variant	—
rs113931022	15:78,901,113	C/T	intron variant	—
rs189218934	15:78,903,987	T/C	intron variant	—
rs146009840	15:78,906,177	A/G	—	—
rs6495308	15:78,907,656	T/C	intron variant	—
rs8042374	15:78,908,032	A/G	intron variant	benign
rs3743076	15:78,909,227	T/G	—	—
rs71581741	15:78,909,358	C/G	—	benign
rs8192479	15:78,909,398	C/T	—	benign
rs1488773319	15:78,909,444	G/A	—	uncertain significance
rs3743075	15:78,909,452	T/C	synonymous variant	benign
rs1402624213	15:78,909,460	T/C	—	uncertain significance
rs75033606	15:78,909,479	G/C	—	likely benign
rs3743074	15:78,909,480	G/A	splice region variant	benign
rs3743073	15:78,909,539	G/T	intron variant	benign
rs8192477	15:78,910,463	G/C	intron variant	—
rs2542839818	15:78,910,945	G/A	—	uncertain significance
rs199547652	15:78,910,957	A/C	—	pathogenic
rs950411440	15:78,910,995	T/A	—	likely benign
rs77368871	15:78,911,017	T/C	—	likely benign
rs878959316	15:78,911,142	C/T	—	uncertain significance
rs8040868	15:78,911,181	T/C	synonymous variant	benign
rs765428894	15:78,911,189	G/A	—	uncertain significance
rs8192475	15:78,911,230	C/T	—	benign
rs1386498088	15:78,911,253	G/A	—	likely benign
rs2869547	15:78,911,261	T/C	—	benign
rs138594509	15:78,912,345	C/T	regulatory region variant	—
rs7170068	15:78,912,943	G/A	regulatory region variant	—
rs12907519	15:78,913,044	T/C	—	benign
rs12906406	15:78,913,087	A/C	—	uncertain significance
rs74947410	15:78,913,131	G/A	—	benign
rs2053539304	15:78,913,136	T/C	—	likely pathogenic
rs8023462	15:78,914,734	C/A	—	—

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.