SLC17A5

solute carrier family 17 member 5

Summary

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

Known Variants489 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886061724	6:74,303,104	A/G	—	uncertain significance
rs540786941	6:74,303,108	C/T	—	uncertain significance
rs141885984	6:74,303,170	C/A	—	conflicting classifications of pathogenicity
rs886061726	6:74,303,234	C/T	—	uncertain significance
rs543558815	6:74,303,235	G/A	—	uncertain significance
rs530389010	6:74,303,267	T/C	—	uncertain significance
rs148144074	6:74,303,308	G/C	—	conflicting classifications of pathogenicity
rs886061727	6:74,303,350	C/T	—	uncertain significance
rs886061728	6:74,303,468	A/T	—	uncertain significance
rs1239251189	6:74,303,594	C/T	—	uncertain significance
rs921762676	6:74,303,645	A/T	—	uncertain significance
rs938117850	6:74,303,744	T/C	—	uncertain significance
rs670248	6:74,303,829	C/T	—	benign
rs142349844	6:74,303,891	G/A	—	benign
rs886061729	6:74,303,899	G/A	—	uncertain significance
rs886061730	6:74,303,963	G/A	—	uncertain significance
rs886061731	6:74,303,983	C/T	—	uncertain significance
rs529408804	6:74,304,001	A/G	—	likely benign
rs139964473	6:74,304,036	C/T	—	benign
rs768718508	6:74,304,038	G/A	—	uncertain significance
rs886061732	6:74,304,134	G/A	—	uncertain significance
rs540399289	6:74,304,205	G/C	—	uncertain significance
rs533473425	6:74,304,212	C/T	—	likely benign
rs1303568875	6:74,304,213	G/A	—	uncertain significance
rs115453489	6:74,304,240	T/C	—	conflicting classifications of pathogenicity
rs538417413	6:74,304,250	C/T	—	uncertain significance
rs933119464	6:74,304,299	C/T	—	uncertain significance
rs1216079110	6:74,304,312	C/T	—	uncertain significance
rs886061733	6:74,304,322	G/A	—	uncertain significance
rs3734518	6:74,304,415	G/C	—	benign
rs886061734	6:74,304,427	C/T	—	uncertain significance
rs3734517	6:74,304,607	T/C	—	benign
rs575300701	6:74,304,626	C/G	—	uncertain significance
rs1041214397	6:74,304,801	C/T	—	likely benign
rs2150071024	6:74,304,806	T/C	—	likely benign
rs201009218	6:74,304,807	C/G	—	uncertain significance
rs1162228347	6:74,304,809	G/A	—	likely benign
rs778722416	6:74,304,815	A/C	—	uncertain significance
rs1766732819	6:74,304,834	C/T	—	uncertain significance
rs1766732959	6:74,304,836	G/A	—	likely benign
rs1766733249	6:74,304,842	T/A	—	likely benign
rs2150071076	6:74,304,848	A/G	—	likely benign
rs141341430	6:74,304,856	C/T	—	conflicting classifications of pathogenicity
rs1382310721	6:74,304,857	G/A	—	likely benign
rs770266444	6:74,304,860	T/C	—	likely benign
rs773917333	6:74,304,862	G/A	—	likely benign
rs763107462	6:74,304,863	T/C	—	likely benign
rs766608932	6:74,304,866	A/G	—	likely benign
rs374866581	6:74,304,869	G/C	—	uncertain significance
rs2533356629	6:74,304,881	A/G	—	likely benign
rs1017115082	6:74,304,887	A/G	—	likely benign
rs367852327	6:74,304,901	C/T	—	uncertain significance
rs1224327278	6:74,304,908	G/A	—	likely benign
rs555461560	6:74,304,913	C/T	—	uncertain significance
rs1205288244	6:74,304,914	G/A	—	likely benign
rs754000835	6:74,304,919	G/A	—	uncertain significance
rs1554160239	6:74,304,921	C/T	—	uncertain significance
rs192599733	6:74,304,923	T/C	—	likely benign
rs886061735	6:74,304,930	A/C	—	uncertain significance
rs202005821	6:74,304,933	G/C	—	uncertain significance
rs2533356904	6:74,304,936	T/C	—	uncertain significance
rs1554160244	6:74,304,939	T/C	—	uncertain significance
rs2150071217	6:74,304,942	A/G	—	likely benign
rs770108730	6:74,304,945	G/A	—	likely benign
rs1201860872	6:74,304,946	G/T	—	likely benign
rs147885477	6:74,304,960	C/T	—	likely benign
rs395996	6:74,309,812	C/T	—	benign
rs2533374609	6:74,310,059	A/G	—	likely benign
rs2533374623	6:74,310,061	A/C	—	likely benign
rs918930871	6:74,310,066	C/G	—	likely benign
rs1057516951	6:74,310,073	C/T	—	pathogenic
rs1034538510	6:74,310,075	T/C	—	uncertain significance
rs779977731	6:74,310,080	G/A	—	likely benign
rs1303680695	6:74,310,085	G/A	—	likely benign
rs751011039	6:74,310,091	T/C	—	uncertain significance
rs1767000687	6:74,310,098	G/A	—	likely benign
rs74360232	6:74,310,100	C/T	—	conflicting classifications of pathogenicity
rs888893721	6:74,310,101	G/A	—	likely benign
rs1214170788	6:74,310,102	G/A	—	uncertain significance
rs373258092	6:74,310,104	C/G	—	likely benign
rs2533374918	6:74,310,107	A/G	—	likely benign
rs573439155	6:74,310,108	A/G	—	uncertain significance
rs2533374972	6:74,310,122	A/C	—	likely benign
rs1195719184	6:74,310,126	G/A	—	uncertain significance
rs200632199	6:74,310,129	A/G	—	uncertain significance
rs2533375182	6:74,310,131	T/C	—	likely benign
rs2533375222	6:74,310,137	T/C	—	likely benign
rs1475561276	6:74,310,140	G/A	—	likely benign
rs1167569087	6:74,310,146	C/A	—	likely benign
rs2533375302	6:74,310,149	G/A	—	likely benign
rs374241516	6:74,310,152	G/T	—	conflicting classifications of pathogenicity
rs772093206	6:74,310,161	A/G	—	likely benign
rs775750187	6:74,310,163	A/T	—	uncertain significance
rs760766672	6:74,310,164	C/G	—	uncertain significance
rs144074675	6:74,310,166	T/G	—	pathogenic
rs764321218	6:74,310,168	T/C	—	likely benign
rs1767004980	6:74,310,169	A/T	—	likely benign
rs2150075911	6:74,310,170	G/A	—	likely benign
rs762738311	6:74,310,179	T/C	—	likely benign
rs1183716694	6:74,320,105	C/T	—	likely benign

Showing 100 of 489 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.