SMG1

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

Summary

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

Known Variants38 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs748584956	16:18,823,443	C/T	—	uncertain significance
rs185146271	16:18,827,685	A/G	—	uncertain significance
rs187828253	16:18,828,712	C/T	—	likely benign
rs764873531	16:18,830,907	A/G	—	likely benign
rs769204162	16:18,840,781	G/A	—	uncertain significance
rs368059624	16:18,841,299	T/C	—	uncertain significance
rs756997118	16:18,845,595	T/C	—	likely benign
rs200954419	16:18,847,261	T/C	—	uncertain significance
rs201763063	16:18,847,508	C/T	—	uncertain significance
rs2507338166	16:18,848,705	A/G	—	uncertain significance
rs2033694474	16:18,849,436	T/C	—	uncertain significance
rs1374051535	16:18,859,362	T/A	—	likely benign
rs2507548585	16:18,861,596	C/T	—	uncertain significance
rs909316167	16:18,864,932	A/C	—	uncertain significance
rs759985675	16:18,865,006	G/A	—	uncertain significance
rs964352494	16:18,870,393	T/A	—	uncertain significance
rs2035102497	16:18,870,911	A/G	—	uncertain significance
rs137863609	16:18,875,042	C/A	—	benign
rs748419528	16:18,875,158	G/C	—	uncertain significance
rs778116624	16:18,875,375	T/A	—	uncertain significance
rs375998689	16:18,877,998	T/C	—	likely benign
rs1316427113	16:18,878,051	C/T	—	uncertain significance
rs371374711	16:18,880,463	T/C	—	benign
rs755935390	16:18,881,248	C/T	—	uncertain significance
rs569679854	16:18,882,730	G/C	—	uncertain significance
rs2507936062	16:18,882,749	T/G	—	uncertain significance
rs369424325	16:18,882,772	G/A	—	uncertain significance
rs200519212	16:18,883,587	G/A	—	benign
rs1042031121	16:18,888,533	T/C	—	uncertain significance
rs189455389	16:18,893,580	T/C	—	benign
rs4286096	16:18,894,661	A/G	—	—
rs2036579951	16:18,896,978	G/A	—	uncertain significance
rs1350852222	16:18,903,593	A/G	—	likely benign
rs372198703	16:18,908,169	G/A	—	uncertain significance
rs2508573802	16:18,908,226	C/T	—	uncertain significance
rs554429823	16:18,913,337	G/C	—	—
rs375781376	16:18,937,325	G/A	—	likely benign
rs190057031	16:18,937,330	T/C	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.