SLMAP

sarcolemma associated protein

Summary

This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Known Variants456 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1053711	3:57,743,246	G/A	—	benign
rs13400	3:57,743,337	C/C	—	likely benign
rs973236515	3:57,743,382	C/T	—	uncertain significance
rs904677979	3:57,743,387	A/T	—	likely benign
rs1234404409	3:57,743,390	C/T	—	likely benign
rs767298958	3:57,743,409	C/T	—	uncertain significance
rs750037826	3:57,743,411	C/G	—	likely benign
rs760264345	3:57,743,420	G/T	—	likely benign
rs765801850	3:57,743,426	G/A	—	likely benign
rs754847103	3:57,743,440	A/G	—	uncertain significance
rs2531504784	3:57,743,448	C/T	—	likely benign
rs752516913	3:57,743,450	G/C	—	likely benign
rs768802511	3:57,743,453	C/T	—	likely benign
rs2531505845	3:57,743,462	C/T	—	likely benign
rs1450197009	3:57,743,468	C/T	—	likely benign
rs144914455	3:57,743,471	C/T	—	likely benign
rs2077849294	3:57,743,477	A/C	—	likely benign
rs2531507729	3:57,743,489	T/C	—	likely benign
rs1377858142	3:57,743,491	G/T	—	uncertain significance
rs1228536991	3:57,743,497	C/T	—	uncertain significance
rs781119976	3:57,743,528	G/A	—	likely benign
rs746438603	3:57,743,529	C/G	—	uncertain significance
rs147270008	3:57,743,531	A/G	—	likely benign
rs1165584321	3:57,743,540	C/T	—	likely benign
rs540039526	3:57,743,550	G/C	—	uncertain significance
rs149291683	3:57,743,569	C/T	—	uncertain significance
rs753251889	3:57,743,570	G/A	—	likely benign
rs2531512511	3:57,743,575	A/G	—	uncertain significance
rs759043349	3:57,743,581	T/C	—	uncertain significance
rs765113508	3:57,743,583	T/A	—	likely benign
rs1362577656	3:57,743,586	C/T	—	likely benign
rs553262496	3:57,743,589	C/T	—	likely benign
rs4269057	3:57,745,038	C/T	intron variant	—
rs28495214	3:57,746,474	G/C	intron variant	—
rs6768930	3:57,779,836	T/G	—	—
rs558579683	3:57,817,096	G/A	—	likely benign
rs1330408620	3:57,817,106	G/T	—	likely benign
rs763926233	3:57,817,115	T/C	—	likely benign
rs1210532198	3:57,817,116	C/A	—	uncertain significance
rs2093330967	3:57,817,122	G/T	—	uncertain significance
rs751324451	3:57,817,124	C/T	—	likely benign
rs2472134982	3:57,817,141	G/A	—	uncertain significance
rs901486021	3:57,817,149	A/G	—	uncertain significance
rs2093332186	3:57,817,169	T/G	—	uncertain significance
rs2153547258	3:57,817,176	T/G	—	uncertain significance
rs2472136740	3:57,817,186	G/A	—	uncertain significance
rs1295613390	3:57,817,191	C/G	—	uncertain significance
rs190769315	3:57,817,208	C/T	—	likely benign
rs756212703	3:57,817,215	A/G	—	uncertain significance
rs541100817	3:57,817,235	C/T	—	likely benign
rs2472138660	3:57,817,239	A/G	—	uncertain significance
rs201859602	3:57,817,261	C/T	—	uncertain significance
rs2093334864	3:57,817,262	G/A	—	uncertain significance
rs371736233	3:57,817,263	G/T	—	uncertain significance
rs772427131	3:57,817,266	A/G	—	likely benign
rs11716875	3:57,817,495	A/G	—	benign
rs12492247	3:57,826,854	G/A	—	benign
rs17554850	3:57,826,884	A/G	—	benign
rs1060503190	3:57,827,025	G/T	—	uncertain significance
rs2093924681	3:57,827,027	T/C	—	likely benign
rs1413305140	3:57,827,046	T/G	—	uncertain significance
rs753184737	3:57,827,050	C/T	—	uncertain significance
rs1201002593	3:57,827,069	A/G	—	likely benign
rs2472430153	3:57,827,073	G/A	—	uncertain significance
rs142516364	3:57,827,086	G/A	—	uncertain significance
rs145924069	3:57,827,087	G/T	—	likely benign
rs748820617	3:57,827,091	C/T	—	uncertain significance
rs368469074	3:57,827,092	G/C	—	uncertain significance
rs1331198816	3:57,827,101	G/A	—	uncertain significance
rs372203871	3:57,827,116	C/T	—	likely benign
rs116002844	3:57,827,265	G/A	—	benign
rs73834742	3:57,832,823	C/T	—	benign
rs536292946	3:57,832,907	T/C	—	likely benign
rs2153574252	3:57,832,908	A/T	—	likely benign
rs143315729	3:57,832,925	G/A	—	uncertain significance
rs748075034	3:57,832,935	C/T	—	uncertain significance
rs1159969169	3:57,832,938	C/A	—	uncertain significance
rs571819301	3:57,832,944	C/G	—	uncertain significance
rs374969209	3:57,832,948	T/C	—	likely benign
rs1041435648	3:57,832,977	T/A	—	likely benign
rs747711840	3:57,835,466	G/A	—	likely benign
rs1352275123	3:57,835,474	T/C	—	likely benign
rs2472817894	3:57,835,489	T/C	—	likely benign
rs746941191	3:57,835,497	C/T	—	uncertain significance
rs1206326973	3:57,835,502	A/T	—	uncertain significance
rs770086716	3:57,835,504	G/C	—	uncertain significance
rs149818070	3:57,835,506	A/C	—	uncertain significance
rs2472819753	3:57,835,514	G/A	—	uncertain significance
rs149758819	3:57,835,519	A/G	—	likely benign
rs750817066	3:57,835,531	T/G	—	likely benign
rs2094439140	3:57,835,549	A/C	—	uncertain significance
rs1319464652	3:57,835,559	G/A	—	likely benign
rs78148182	3:57,835,745	T/A	—	benign
rs569279094	3:57,843,450	G/A	—	likely benign
rs761841068	3:57,843,452	A/G	—	likely benign
rs773646953	3:57,843,464	C/G	—	uncertain significance
rs766644866	3:57,843,472	C/T	—	uncertain significance
rs2473214782	3:57,843,475	G/A	—	uncertain significance
rs2094864033	3:57,843,477	A/G	—	likely benign
rs762494292	3:57,843,501	C/G	—	likely benign

Showing 100 of 456 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.