GALNT2

polypeptide N-acetylgalactosaminyltransferase 2

Summary

This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants153 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12040273	1:230,199,398	C/T	upstream gene variant	—
rs763087504	1:230,203,067	C/T	—	likely benign
rs1229403195	1:230,203,099	C/T	—	likely benign
rs2102738036	1:230,203,100	T/G	—	uncertain significance
rs753282220	1:230,203,116	C/T	—	uncertain significance
rs2527203412	1:230,203,121	G/T	—	likely benign
rs1182667186	1:230,203,124	G/A	—	uncertain significance
rs750017736	1:230,203,141	C/T	—	likely benign
rs529277892	1:230,203,145	G/C	—	uncertain significance
rs1290576785	1:230,203,165	G/A	—	likely benign
rs1228313781	1:230,203,172	C/T	—	likely benign
rs4846898	1:230,252,218	A/G	intron variant	—
rs7549029	1:230,253,406	G/A	intron variant	—
rs114757559	1:230,254,117	G/A	regulatory region variant	—
rs116773789	1:230,265,884	C/T	intron variant	—
rs61825397	1:230,266,459	A/G	—	—
rs4846910	1:230,291,441	C/A	intron variant	—
rs910502	1:230,294,185	A/C	—	—
rs2144300	1:230,294,916	C/T	regulatory region variant	—
rs17315646	1:230,295,307	C/A	—	—
rs4846914	1:230,295,691	G/A	intron variant	—
rs10127775	1:230,295,789	A/T	intron variant	—
rs10864726	1:230,296,153	C/A	—	—
rs4846915	1:230,296,470	C/G	—	—
rs4846916	1:230,296,492	G/T	—	—
rs2281721	1:230,297,136	C/T	regulatory region variant	—
rs2281718	1:230,297,778	A/T	intron variant	—
rs10864727	1:230,297,939	A/G	intron variant	—
rs2103827	1:230,298,285	T/A	intron variant	—
rs4846917	1:230,299,222	T/C	regulatory region variant	—
rs4846919	1:230,301,451	A/C	—	—
rs1546954	1:230,303,848	T/G	intron variant	—
rs11122454	1:230,304,051	C/T	intron variant	—
rs4846921	1:230,304,352	G/A	intron variant	—
rs10864728	1:230,304,914	A/G	intron variant	—
rs11122455	1:230,304,930	C/G	intron variant	—
rs10489615	1:230,304,988	A/C	—	—
rs11122456	1:230,305,966	A/G	regulatory region variant	—
rs4846922	1:230,307,182	T/G	—	—
rs1124110	1:230,310,972	T/C	intron variant	—
rs994653305	1:230,313,986	C/G	—	uncertain significance
rs1312064338	1:230,314,000	G/T	—	uncertain significance
rs1255488508	1:230,314,002	C/T	—	likely benign
rs759784384	1:230,314,007	A/G	—	uncertain significance
rs1663049535	1:230,314,012	A/G	—	uncertain significance
rs754280873	1:230,314,032	A/C	—	likely benign
rs1170033446	1:230,314,052	C/T	—	uncertain significance
rs2527451264	1:230,314,068	G/A	—	likely benign
rs149481992	1:230,317,152	A/C	intron variant	—
rs611701	1:230,324,173	C/T	intron variant	—
rs61563010	1:230,332,488	C/A	—	—
rs184261638	1:230,338,892	G/A	—	uncertain significance
rs753827934	1:230,338,914	A/G	—	likely benign
rs780366072	1:230,338,947	G/A	—	likely benign
rs1663960324	1:230,338,973	T/C	—	likely pathogenic
rs72646701	1:230,339,046	C/G	—	benign
rs76813899	1:230,339,047	C/A	—	benign
rs527380779	1:230,371,756	G/A	—	likely benign
rs779465339	1:230,371,767	C/T	—	uncertain significance
rs556141120	1:230,371,768	G/A	—	uncertain significance
rs151140953	1:230,371,780	G/A	—	uncertain significance
rs556402107	1:230,371,799	C/G	—	likely benign
rs2527574095	1:230,371,834	C/T	—	uncertain significance
rs138909324	1:230,371,835	G/A	—	conflicting classifications of pathogenicity
rs2527574130	1:230,371,845	A/T	—	uncertain significance
rs142001055	1:230,371,876	A/G	—	benign
rs775384037	1:230,372,111	A/G	—	benign
rs141843529	1:230,372,116	C/G	—	uncertain significance
rs34897003	1:230,372,117	G/A	—	benign
rs200832422	1:230,372,138	C/G	—	uncertain significance
rs2102736154	1:230,372,151	G/C	—	uncertain significance
rs773280149	1:230,372,392	T/C	—	likely benign
rs752133091	1:230,372,413	C/T	—	likely benign
rs779769225	1:230,372,445	G/A	—	uncertain significance
rs1431963909	1:230,372,462	C/T	—	pathogenic
rs1572128951	1:230,379,038	A/G	—	uncertain significance
rs2102741708	1:230,379,067	G/A	—	likely pathogenic
rs139591495	1:230,379,072	C/T	—	uncertain significance
rs376870425	1:230,379,073	G/C	—	likely pathogenic
rs112101154	1:230,379,080	C/T	—	likely benign
rs142046356	1:230,379,092	A/T	—	conflicting classifications of pathogenicity
rs570311189	1:230,379,170	G/A	—	benign
rs200971686	1:230,379,183	C/T	—	benign
rs764168215	1:230,379,186	G/A	—	likely benign
rs199981857	1:230,379,193	G/T	—	likely benign
rs187742634	1:230,381,791	C/T	—	likely benign
rs575842866	1:230,381,838	C/T	—	benign
rs753841195	1:230,381,839	G/A	—	uncertain significance
rs142736956	1:230,381,895	C/T	—	uncertain significance
rs3748006	1:230,384,937	T/C	—	benign
rs1923950	1:230,384,970	G/A	—	benign
rs1665467473	1:230,384,977	C/T	—	pathogenic
rs776404910	1:230,384,980	A/G	—	uncertain significance
rs762888092	1:230,385,006	C/T	—	likely benign
rs199925000	1:230,385,007	G/A	—	uncertain significance
rs774479602	1:230,385,020	A/G	—	uncertain significance
rs532224820	1:230,386,196	T/C	—	likely benign
rs1358319771	1:230,386,210	A/G	—	uncertain significance
rs78164071	1:230,386,238	A/C	—	likely benign
rs765888501	1:230,386,246	T/C	—	uncertain significance

Showing 100 of 153 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.