ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

Summary

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Known Variants356 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1163915476	1:44,182,995	T/C	—	uncertain significance
rs868470605	1:44,183,228	G/A	—	uncertain significance
rs6429636	1:44,183,540	G/A	—	—
rs112361411	1:44,183,923	C/A	—	—
rs12410444	1:44,188,719	A/G	intron variant	—
rs533413663	1:44,189,348	T/G	—	uncertain significance
rs12118210	1:44,199,979	G/C	—	—
rs72678661	1:44,200,991	G/T	intron variant	—
rs2154091793	1:44,201,936	G/A	—	uncertain significance
rs1034986338	1:44,201,945	G/A	—	likely benign
rs773973717	1:44,201,948	A/G	—	likely benign
rs900948973	1:44,201,956	G/A	—	uncertain significance
rs1255599678	1:44,201,958	A/C	—	uncertain significance
rs1441726807	1:44,201,959	A/G	—	uncertain significance
rs387906943	1:44,201,971	C/A	missense variant	pathogenic
rs1678418453	1:44,201,991	C/G	—	uncertain significance
rs751825349	1:44,202,013	C/T	—	uncertain significance
rs201489310	1:44,202,014	G/A	—	likely benign
rs138684243	1:44,202,020	G/A	—	likely benign
rs774202202	1:44,202,049	C/T	—	uncertain significance
rs572942778	1:44,202,051	A/G	—	uncertain significance
rs2154091891	1:44,202,052	G/A	—	likely pathogenic
rs2548118524	1:44,202,054	A/G	—	uncertain significance
rs759128744	1:44,202,056	G/A	—	uncertain significance
rs771733014	1:44,202,057	T/C	—	uncertain significance
rs147330005	1:44,202,061	G/C	—	conflicting classifications of pathogenicity
rs1233749343	1:44,202,067	C/T	—	likely benign
rs149404491	1:44,202,087	C/G	—	uncertain significance
rs766784665	1:44,202,090	G/T	—	uncertain significance
rs7511800	1:44,214,269	A/G	—	—
rs2367725	1:44,215,828	C/A	—	—
rs202215468	1:44,221,787	A/G	—	—
rs11587515	1:44,222,570	C/T	intron variant	—
rs56009633	1:44,231,481	T/C	intron variant	—
rs6656457	1:44,233,662	G/C	intron variant	—
rs7531165	1:44,237,247	C/T	intron variant	—
rs11210918	1:44,240,533	T/A	intron variant	—
rs12119149	1:44,243,283	C/T	intron variant	—
rs12750525	1:44,244,340	G/C	—	—
rs4660749	1:44,250,301	T/C	—	—
rs2058150420	1:44,257,753	C/T	—	likely benign
rs2154152717	1:44,257,764	G/T	—	likely benign
rs2549288821	1:44,257,777	A/G	—	likely benign
rs2154152726	1:44,257,786	T/C	—	uncertain significance
rs756428954	1:44,257,798	C/T	—	likely benign
rs756909492	1:44,257,799	G/A	—	uncertain significance
rs2549289431	1:44,257,801	T/C	—	likely benign
rs778787798	1:44,257,819	A/G	—	uncertain significance
rs148531289	1:44,257,821	G/A	—	pathogenic
rs758114317	1:44,257,827	A/G	—	likely benign
rs372849609	1:44,257,828	C/T	—	likely benign
rs746574834	1:44,257,830	C/T	—	likely benign
rs2549290353	1:44,257,831	T/G	—	likely benign
rs768368942	1:44,257,833	C/T	—	likely benign
rs776232215	1:44,257,835	C/T	—	likely benign
rs747694634	1:44,257,838	T/C	—	likely benign
rs1502907	1:44,258,040	A/G	—	benign
rs34224911	1:44,258,341	A/T	intron variant	—
rs246776	1:44,274,699	C/T	intron variant	—
rs37468	1:44,280,381	T/A	—	benign
rs3791064	1:44,280,425	T/G	—	benign
rs199609363	1:44,280,556	T/A	—	likely benign
rs2549629250	1:44,280,561	A/G	—	likely pathogenic
rs2061043617	1:44,280,569	A/G	—	uncertain significance
rs764808181	1:44,280,572	G/A	—	uncertain significance
rs1573469827	1:44,280,586	C/T	—	likely benign
rs2154177128	1:44,280,587	T/C	—	uncertain significance
rs2549629837	1:44,280,588	G/T	—	likely benign
rs2549630280	1:44,280,610	G/A	—	uncertain significance
rs763959477	1:44,280,615	A/G	—	likely benign
rs2549630435	1:44,280,618	A/T	—	likely benign
rs747853948	1:44,280,619	G/T	—	likely benign
rs553659855	1:44,280,622	G/A	—	likely benign
rs2154177164	1:44,280,623	A/G	—	likely benign
rs146539823	1:44,290,403	C/T	—	likely benign
rs116390403	1:44,290,409	G/A	—	likely benign
rs113954699	1:44,290,523	C/T	—	conflicting classifications of pathogenicity
rs111385873	1:44,290,524	G/A	—	uncertain significance
rs37458	1:44,290,530	G/A	—	benign
rs367926299	1:44,290,571	C/T	—	likely benign
rs37455	1:44,294,228	A/G	intron variant	—
rs37454	1:44,294,411	C/G	—	—
rs111384159	1:44,303,743	C/T	—	benign
rs756863895	1:44,303,875	C/T	—	likely benign
rs764744327	1:44,303,879	C/G	—	likely benign
rs749922758	1:44,303,885	C/T	—	likely benign
rs2064759817	1:44,303,887	A/G	—	likely benign
rs2522893135	1:44,303,890	G/C	—	likely pathogenic
rs1172211161	1:44,303,909	C/A	—	likely benign
rs748703922	1:44,303,912	G/A	—	likely benign
rs2522897113	1:44,303,914	A/G	—	uncertain significance
rs550614361	1:44,303,915	C/T	—	likely benign
rs778068441	1:44,303,916	G/A	—	uncertain significance
rs201552654	1:44,303,925	T/A	—	uncertain significance
rs2154197428	1:44,303,927	A/G	—	likely benign
rs1573982392	1:44,303,930	G/A	—	likely benign
rs1461836458	1:44,303,932	G/A	—	uncertain significance
rs2522899482	1:44,303,933	A/G	—	likely benign
rs745979516	1:44,303,954	T/G	—	likely benign
rs376537870	1:44,303,968	C/T	—	uncertain significance

Showing 100 of 356 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.