SCN3A

sodium voltage-gated channel alpha subunit 3

Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,474 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs938685287	2:165,946,663	C/T	—	likely benign
rs1040498167	2:165,946,665	T/C	—	uncertain significance
rs145220602	2:165,946,666	T/G	—	likely benign
rs1060500007	2:165,946,667	T/G	—	uncertain significance
rs2105615009	2:165,946,670	T/C	—	uncertain significance
rs1342543734	2:165,946,674	C/A	—	uncertain significance
rs1283747930	2:165,946,676	C/G	—	uncertain significance
rs1372359509	2:165,946,679	A/T	—	uncertain significance
rs2105615122	2:165,946,680	C/T	—	uncertain significance
rs1230573200	2:165,946,688	C/A	—	uncertain significance
rs1168951292	2:165,946,693	G/C	—	uncertain significance
rs2468035145	2:165,946,695	T/C	—	uncertain significance
rs769926645	2:165,946,698	C/T	—	uncertain significance
rs1329050086	2:165,946,707	G/T	—	uncertain significance
rs145197227	2:165,946,711	G/A	—	likely benign
rs771039148	2:165,946,714	T/C	—	likely benign
rs774354894	2:165,946,716	T/C	—	uncertain significance
rs2105615569	2:165,946,723	C/T	—	likely benign
rs867557645	2:165,946,728	C/T	—	uncertain significance
rs2105615668	2:165,946,734	C/G	—	uncertain significance
rs2468035453	2:165,946,737	G/A	—	uncertain significance
rs775875793	2:165,946,744	T/C	—	likely benign
rs2468035526	2:165,946,747	A/G	—	likely benign
rs544616252	2:165,946,752	C/G	—	uncertain significance
rs146624492	2:165,946,774	A/G	—	conflicting classifications of pathogenicity
rs1394287309	2:165,946,775	G/A	—	uncertain significance
rs749832883	2:165,946,781	C/T	—	uncertain significance
rs184544899	2:165,946,782	T/A	—	uncertain significance
rs373231663	2:165,946,783	C/T	—	likely benign
rs751266947	2:165,946,785	C/T	—	uncertain significance
rs1483176268	2:165,946,790	G/C	—	uncertain significance
rs2468035957	2:165,946,796	T/C	—	uncertain significance
rs1685018949	2:165,946,800	G/A	—	uncertain significance
rs2468035973	2:165,946,801	A/G	—	likely benign
rs76096365	2:165,946,804	G/A	—	benign
rs2468036012	2:165,946,807	G/A	—	likely benign
rs1308612688	2:165,946,811	C/T	—	uncertain significance
rs374177945	2:165,946,818	G/A	—	likely benign
rs189059609	2:165,946,820	T/G	—	likely benign
rs777771890	2:165,946,822	G/A	—	likely benign
rs745891599	2:165,946,826	A/G	—	uncertain significance
rs2105616234	2:165,946,829	A/G	—	uncertain significance
rs772325512	2:165,946,832	A/G	—	uncertain significance
rs149264761	2:165,946,838	T/C	—	conflicting classifications of pathogenicity
rs1431851839	2:165,946,839	G/C	—	uncertain significance
rs1306347542	2:165,946,845	T/C	—	uncertain significance
rs1304082055	2:165,946,850	A/G	—	uncertain significance
rs1230519000	2:165,946,852	G/A	—	likely benign
rs2105616433	2:165,946,854	C/A	—	uncertain significance
rs776798468	2:165,946,862	C/T	—	uncertain significance
rs2105616547	2:165,946,863	C/T	—	uncertain significance
rs1685024495	2:165,946,866	T/A	—	uncertain significance
rs762239762	2:165,946,871	G/A	—	uncertain significance
rs994591987	2:165,946,872	C/T	—	uncertain significance
rs1685025962	2:165,946,874	T/C	—	uncertain significance
rs931103930	2:165,946,876	T/C	—	likely benign
rs773793799	2:165,946,879	G/T	—	uncertain significance
rs1685027366	2:165,946,882	A/G	—	likely benign
rs762432345	2:165,946,885	G/C	—	uncertain significance
rs765919309	2:165,946,889	C/T	—	conflicting classifications of pathogenicity
rs1685027995	2:165,946,890	T/C	—	uncertain significance
rs1295645330	2:165,946,895	A/G	—	conflicting classifications of pathogenicity
rs2105616939	2:165,946,903	T/C	—	likely benign
rs2105616990	2:165,946,908	T/A	—	uncertain significance
rs1553517042	2:165,946,924	A/G	—	likely benign
rs1553517046	2:165,946,929	T/G	—	uncertain significance
rs376113629	2:165,946,937	C/T	—	conflicting classifications of pathogenicity
rs200752113	2:165,946,938	G/A	—	uncertain significance
rs367631757	2:165,946,950	C/T	—	uncertain significance
rs780334537	2:165,946,952	G/A	—	uncertain significance
rs1248527576	2:165,946,956	A/T	—	uncertain significance
rs2468037175	2:165,946,961	T/C	—	uncertain significance
rs1553517069	2:165,946,962	C/T	—	uncertain significance
rs2105617506	2:165,946,963	C/T	—	likely benign
rs747096151	2:165,946,964	T/C	—	uncertain significance
rs950595171	2:165,946,967	T/A	—	uncertain significance
rs768691987	2:165,946,973	C/T	—	uncertain significance
rs781506035	2:165,946,974	G/A	—	uncertain significance
rs1553517088	2:165,946,979	A/G	—	uncertain significance
rs2468037415	2:165,946,982	G/A	—	uncertain significance
rs748414391	2:165,946,984	G/C	—	likely benign
rs945486162	2:165,946,985	G/T	—	uncertain significance
rs73969174	2:165,946,993	A/G	—	benign
rs2468037555	2:165,947,000	T/A	—	uncertain significance
rs2468037567	2:165,947,001	A/G	—	uncertain significance
rs141161490	2:165,947,005	G/A	—	likely benign
rs878854906	2:165,947,007	C/T	—	uncertain significance
rs1286609602	2:165,947,011	G/A	—	likely benign
rs763522130	2:165,947,016	G/T	—	uncertain significance
rs770414744	2:165,947,017	G/A	—	likely benign
rs1685038421	2:165,947,024	G/A	—	uncertain significance
rs991413984	2:165,947,025	C/T	—	uncertain significance
rs773793959	2:165,947,027	A/G	—	uncertain significance
rs2105617980	2:165,947,032	C/A	—	uncertain significance
rs1259899127	2:165,947,033	C/T	—	uncertain significance
rs1685039057	2:165,947,034	T/A	—	uncertain significance
rs201183625	2:165,947,035	G/A	—	likely benign
rs1574087624	2:165,947,036	T/C	—	uncertain significance
rs1685039783	2:165,947,042	A/G	—	likely pathogenic
rs767038374	2:165,947,049	T/C	—	uncertain significance

Showing 100 of 1,474 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.