SLC35D1

solute carrier family 35 member D1

Summary

Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]

Known Variants176 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11208978	1:67,442,210	C/T	intron variant	—
rs12130046	1:67,444,043	G/A	intron variant	—
rs4581250	1:67,449,462	A/C	—	—
rs12117131	1:67,451,922	C/T	downstream gene variant	—
rs12132068	1:67,451,924	G/T	downstream gene variant	—
rs12143044	1:67,460,054	A/T	downstream gene variant	—
rs1460400418	1:67,470,044	A/G	—	likely benign
rs200622288	1:67,470,084	T/G	—	likely benign
rs372640176	1:67,470,105	T/C	—	uncertain significance
rs1329780595	1:67,470,115	C/A	—	uncertain significance
rs185665670	1:67,470,140	C/G	—	likely benign
rs112536981	1:67,470,209	T/C	—	likely benign
rs2755256	1:67,471,692	A/T	intron variant	—
rs2755266	1:67,473,977	A/G	intron variant	—
rs2755270	1:67,474,503	C/T	—	benign
rs2524605392	1:67,474,761	T/C	—	likely benign
rs199878087	1:67,474,772	T/C	—	uncertain significance
rs1570607481	1:67,474,779	A/G	—	likely benign
rs1667509944	1:67,474,782	A/T	—	likely benign
rs137853111	1:67,474,795	C/T	stop gained	pathogenic
rs1314283727	1:67,474,797	C/T	—	conflicting classifications of pathogenicity
rs2524605611	1:67,474,800	G/A	—	likely benign
rs925450718	1:67,474,808	A/T	—	likely pathogenic
rs936897641	1:67,474,825	A/G	—	uncertain significance
rs779873232	1:67,474,835	A/G	—	uncertain significance
rs1667513238	1:67,474,864	T/C	—	likely benign
rs151071375	1:67,474,867	T/C	—	likely benign
rs12061148	1:67,474,880	T/C	—	benign
rs2755271	1:67,474,977	C/T	—	benign
rs75642941	1:67,475,042	C/T	—	likely benign
rs2524660509	1:67,486,047	C/T	—	uncertain significance
rs2524660720	1:67,486,083	G/T	—	uncertain significance
rs199585658	1:67,486,092	T/C	—	uncertain significance
rs751569615	1:67,486,098	G/A	—	uncertain significance
rs201771401	1:67,486,111	T/C	—	uncertain significance
rs149117184	1:67,486,112	G/T	—	likely benign
rs143218310	1:67,486,114	C/T	—	conflicting classifications of pathogenicity
rs372859338	1:67,486,115	G/A	—	likely benign
rs752637008	1:67,486,116	T/C	—	uncertain significance
rs115267525	1:67,486,394	T/C	—	likely benign
rs11208991	1:67,487,074	T/C	—	benign
rs17129600	1:67,487,097	G/A	—	likely benign
rs77253931	1:67,487,109	C/T	—	benign
rs2065002	1:67,487,119	C/A	—	benign
rs374531477	1:67,487,202	G/A	—	benign
rs553561259	1:67,487,239	A/T	—	uncertain significance
rs1667798707	1:67,487,241	C/G	—	uncertain significance
rs111752207	1:67,487,256	G/A	—	likely benign
rs761883959	1:67,487,258	T/C	—	uncertain significance
rs773440701	1:67,487,277	C/A	—	uncertain significance
rs1667800161	1:67,487,290	A/C	—	likely benign
rs138429988	1:67,487,293	A/G	—	benign
rs61780038	1:67,487,376	C/A	—	benign
rs61780039	1:67,487,377	A/G	—	benign
rs1480182463	1:67,487,383	G/C	—	likely benign
rs11576749	1:67,487,389	G/C	—	benign
rs11576753	1:67,487,401	G/C	—	benign
rs11208992	1:67,487,407	G/C	—	benign
rs12036898	1:67,487,439	C/T	—	benign
rs2815358	1:67,493,778	T/C	—	—
rs2815367	1:67,500,762	G/A	intron variant	—
rs2815374	1:67,507,387	G/A	intron variant	—
rs17129630	1:67,507,703	T/C	—	likely benign
rs2815375	1:67,507,734	A/T	—	benign
rs150492296	1:67,507,879	C/T	—	likely benign
rs372293572	1:67,507,901	G/A	—	likely benign
rs369573563	1:67,507,907	A/G	—	likely benign
rs7539628	1:67,507,914	C/G	—	benign
rs200496218	1:67,507,936	T/C	—	uncertain significance
rs199561187	1:67,507,941	T/C	—	conflicting classifications of pathogenicity
rs142750829	1:67,507,943	C/T	—	likely benign
rs920330019	1:67,507,961	C/A	—	likely benign
rs138369664	1:67,507,976	T/G	—	benign
rs1277339639	1:67,507,988	G/C	—	likely benign
rs778198967	1:67,507,994	T/C	—	likely benign
rs1171884826	1:67,508,011	C/A	—	likely pathogenic
rs375256736	1:67,508,019	A/G	—	likely benign
rs761687260	1:67,508,022	A/G	—	likely benign
rs79424188	1:67,508,067	A/G	—	benign
rs1024228	1:67,512,695	A/G	—	benign
rs2273680	1:67,512,861	G/T	—	likely benign
rs1024229	1:67,512,903	T/G	—	benign
rs1024230	1:67,512,920	A/C	—	benign
rs1570643880	1:67,512,947	C/A	—	pathogenic
rs752308674	1:67,512,972	G/A	—	likely benign
rs1460728536	1:67,512,979	C/G	—	uncertain significance
rs1367006457	1:67,512,988	G/A	—	uncertain significance
rs148581417	1:67,512,998	C/T	—	uncertain significance
rs371167014	1:67,513,002	G/A	—	likely benign
rs1335018159	1:67,513,009	A/G	—	uncertain significance
rs746810857	1:67,513,031	G/T	—	uncertain significance
rs374480702	1:67,513,032	A/G	—	likely benign
rs2208576	1:67,513,401	C/G	—	benign
rs2815382	1:67,515,228	G/A	—	benign
rs2755257	1:67,515,309	C/T	—	benign
rs368016786	1:67,515,472	C/A	—	uncertain significance
rs1407589659	1:67,515,490	T/C	—	uncertain significance
rs775048147	1:67,515,506	C/T	—	uncertain significance
rs750369847	1:67,515,537	C/T	—	likely benign
rs762114068	1:67,515,538	A/G	—	likely benign

Showing 100 of 176 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.