GNAT1

G protein subunit alpha transducin 1

Summary

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

Known Variants286 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11716820	3:50,228,316	C/T	downstream gene variant	—
rs3755831	3:50,228,767	G/T	—	benign
rs7611074	3:50,229,029	G/C	—	benign
rs151191490	3:50,229,157	C/G	—	benign
rs763736641	3:50,229,159	A/G	—	uncertain significance
rs753375778	3:50,229,161	G/C	—	uncertain significance
rs1266812415	3:50,229,165	G/A	—	uncertain significance
rs1699413898	3:50,229,168	G/C	—	uncertain significance
rs376502535	3:50,229,173	C/T	—	likely benign
rs780667765	3:50,229,174	A/G	—	uncertain significance
rs1575415974	3:50,229,179	T/C	—	likely benign
rs1019065205	3:50,229,191	C/T	—	likely benign
rs201006405	3:50,229,196	G/A	—	likely benign
rs201955783	3:50,229,197	G/A	—	likely benign
rs748389570	3:50,229,200	G/A	—	likely benign
rs936264524	3:50,229,203	G/A	—	likely benign
rs1699414848	3:50,229,216	A/G	—	uncertain significance
rs2109137464	3:50,229,218	A/G	—	likely benign
rs367565550	3:50,229,224	C/T	—	likely benign
rs1053549443	3:50,229,225	G/A	—	uncertain significance
rs774214573	3:50,229,240	C/T	—	likely pathogenic
rs149936603	3:50,229,241	G/A	—	conflicting classifications of pathogenicity
rs775324794	3:50,229,245	C/T	—	likely benign
rs145040990	3:50,229,246	G/A	—	uncertain significance
rs2546141985	3:50,229,248	G/T	—	uncertain significance
rs2109137511	3:50,229,257	G/A	—	likely benign
rs2109137515	3:50,229,259	T/A	—	uncertain significance
rs1458228620	3:50,229,274	T/A	—	likely benign
rs60564525	3:50,229,384	G/A	—	benign
rs115560086	3:50,229,497	C/T	—	benign
rs778959098	3:50,230,552	C/T	—	likely benign
rs745833016	3:50,230,555	G/T	—	likely benign
rs2109138304	3:50,230,560	T/C	—	likely benign
rs772024349	3:50,230,566	G/A	—	uncertain significance
rs2109138307	3:50,230,567	T/A	—	likely benign
rs1195798989	3:50,230,570	C/T	—	likely benign
rs104893740	3:50,230,572	G/A	missense variant	pathogenic
rs34797487	3:50,230,576	G/T	—	uncertain significance
rs2546143887	3:50,230,579	C/A	—	likely benign
rs2546143918	3:50,230,590	C/G	—	uncertain significance
rs764910362	3:50,230,595	G/A	—	uncertain significance
rs749921670	3:50,230,601	C/G	—	uncertain significance
rs1481609578	3:50,230,611	G/A	—	uncertain significance
rs1699440055	3:50,230,616	C/A	—	conflicting classifications of pathogenicity
rs201449427	3:50,230,681	G/C	—	likely benign
rs2546144205	3:50,230,694	T/C	—	likely benign
rs1041904269	3:50,230,711	G/T	—	uncertain significance
rs776566245	3:50,230,713	C/T	—	conflicting classifications of pathogenicity
rs747846195	3:50,230,716	G/C	—	likely benign
rs190126440	3:50,230,719	C/G	—	pathogenic
rs772624047	3:50,230,722	G/C	—	likely benign
rs2546144237	3:50,230,724	T/C	—	uncertain significance
rs1309682929	3:50,230,734	C/T	—	likely benign
rs2546144283	3:50,230,749	C/T	—	likely benign
rs1205473151	3:50,230,752	C/T	—	likely benign
rs2546144317	3:50,230,757	A/C	—	uncertain significance
rs762489106	3:50,230,758	C/G	—	pathogenic
rs767935708	3:50,230,759	G/T	—	uncertain significance
rs1236654107	3:50,230,766	C/T	—	uncertain significance
rs2546144338	3:50,230,770	G/A	—	likely benign
rs764511104	3:50,230,777	A/T	—	uncertain significance
rs754189877	3:50,230,779	C/G	—	uncertain significance
rs765432703	3:50,230,784	C/G	—	uncertain significance
rs201849628	3:50,230,789	G/A	—	conflicting classifications of pathogenicity
rs1325267297	3:50,230,795	G/A	—	uncertain significance
rs1699444080	3:50,230,807	C/T	—	uncertain significance
rs767518257	3:50,230,811	A/G	—	uncertain significance
rs1403539761	3:50,230,820	A/G	—	uncertain significance
rs143481438	3:50,230,821	C/A	—	pathogenic
rs772876090	3:50,230,826	A/G	—	uncertain significance
rs761230008	3:50,230,850	A/C	—	likely benign
rs2109138586	3:50,230,851	G/A	—	likely benign
rs764527645	3:50,230,853	C/A	—	likely benign
rs776984245	3:50,230,854	G/A	—	likely benign
rs1164772384	3:50,230,857	C/T	—	likely benign
rs201305115	3:50,230,902	C/T	—	likely benign
rs376181136	3:50,230,936	C/T	—	uncertain significance
rs374784713	3:50,230,941	C/T	—	likely benign
rs751690161	3:50,230,944	C/T	—	likely benign
rs1699447851	3:50,230,957	A/G	—	uncertain significance
rs752906907	3:50,230,967	C/T	—	uncertain significance
rs2546144783	3:50,230,975	A/G	—	uncertain significance
rs756003441	3:50,230,976	T/A	—	uncertain significance
rs2109138737	3:50,230,977	C/T	—	likely benign
rs756938854	3:50,231,001	G/A	—	likely benign
rs778497200	3:50,231,006	C/A	—	conflicting classifications of pathogenicity
rs745403943	3:50,231,007	G/C	—	likely benign
rs540227694	3:50,231,020	C/T	—	uncertain significance
rs199611280	3:50,231,021	G/A	—	uncertain significance
rs763156863	3:50,231,024	T/A	—	uncertain significance
rs373544213	3:50,231,026	T/C	—	uncertain significance
rs786205854	3:50,231,033	A/G	missense variant	pathogenic
rs928804929	3:50,231,035	T/G	—	uncertain significance
rs767774993	3:50,231,037	C/T	—	likely benign
rs141497735	3:50,231,042	T/G	—	benign
rs1699452379	3:50,231,048	C/G	—	uncertain significance
rs763872409	3:50,231,049	C/T	—	likely benign
rs147238978	3:50,231,058	G/A	—	likely benign
rs1268403135	3:50,231,059	C/G	—	uncertain significance
rs1440003996	3:50,231,066	C/A	—	pathogenic

Showing 100 of 286 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.