SLC33A1

solute carrier family 33 member 1

Summary

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants207 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77664705	3:155,544,858	T/A	—	uncertain significance
rs1752264956	3:155,546,003	T/C	—	uncertain significance
rs767949889	3:155,546,007	T/C	—	conflicting classifications of pathogenicity
rs1163944109	3:155,546,023	C/G	—	uncertain significance
rs767960891	3:155,546,024	G/A	—	uncertain significance
rs1752268714	3:155,546,034	C/A	—	uncertain significance
rs757490105	3:155,546,047	C/T	—	likely benign
rs1752269420	3:155,546,050	T/C	—	likely benign
rs2109302264	3:155,546,053	A/G	—	likely benign
rs371730554	3:155,546,062	A/T	—	likely benign
rs200914930	3:155,546,070	A/C	—	conflicting classifications of pathogenicity
rs150442784	3:155,546,080	A/G	—	likely benign
rs756134272	3:155,546,089	A/G	—	likely benign
rs777143987	3:155,546,090	A/G	—	uncertain significance
rs2109302353	3:155,546,113	C/T	—	uncertain significance
rs2109302362	3:155,546,114	A/G	—	uncertain significance
rs770512726	3:155,546,118	A/G	—	uncertain significance
rs1752271816	3:155,546,119	A/G	—	likely benign
rs76440173	3:155,546,124	C/T	—	conflicting classifications of pathogenicity
rs2473803031	3:155,546,131	G/A	—	likely benign
rs149578822	3:155,546,144	G/A	—	uncertain significance
rs528636548	3:155,546,151	C/A	—	uncertain significance
rs1064796773	3:155,546,160	T/C	—	uncertain significance
rs762008203	3:155,546,162	C/G	—	uncertain significance
rs547275879	3:155,546,239	C/T	—	likely benign
rs538514	3:155,546,552	C/T	regulatory region variant	—
rs142734706	3:155,547,238	G/C	—	likely benign
rs382534	3:155,547,274	C/T	—	benign
rs149522913	3:155,547,470	T/C	—	likely benign
rs778818014	3:155,547,476	C/A	—	uncertain significance
rs1386573259	3:155,547,482	C/T	—	uncertain significance
rs745849692	3:155,547,502	T/C	—	uncertain significance
rs144015992	3:155,547,508	T/G	—	likely benign
rs747418232	3:155,547,521	C/T	—	uncertain significance
rs777226978	3:155,547,534	T/C	—	uncertain significance
rs2473806899	3:155,547,539	G/A	—	uncertain significance
rs2109304787	3:155,547,546	T/C	—	likely benign
rs769973927	3:155,547,563	C/G	—	uncertain significance
rs2473807128	3:155,547,595	A/G	—	uncertain significance
rs752376934	3:155,547,596	C/T	—	uncertain significance
rs760539887	3:155,547,597	G/A	—	likely benign
rs1064797299	3:155,547,604	A/G	—	uncertain significance
rs1293737668	3:155,547,644	C/T	—	uncertain significance
rs1252296385	3:155,547,659	C/T	—	uncertain significance
rs147467519	3:155,547,661	A/G	—	uncertain significance
rs747300088	3:155,547,672	A/G	—	likely benign
rs769034906	3:155,547,675	C/T	—	uncertain significance
rs374910883	3:155,547,681	G/A	—	likely benign
rs1752341895	3:155,547,682	T/C	—	uncertain significance
rs148470862	3:155,547,691	A/G	—	conflicting classifications of pathogenicity
rs1577455897	3:155,547,693	C/T	—	pathogenic
rs779467886	3:155,547,696	C/T	—	likely benign
rs1752343214	3:155,547,707	A/G	—	likely benign
rs113309483	3:155,547,928	G/A	—	benign
rs1963395	3:155,547,945	G/A	—	benign
rs503139	3:155,551,005	C/T	—	benign
rs147432944	3:155,551,064	A/T	—	likely benign
rs7617024	3:155,551,144	T/C	—	benign
rs7617114	3:155,551,203	T/C	—	benign
rs7649631	3:155,551,206	C/T	—	benign
rs878854744	3:155,551,248	C/G	—	likely benign
rs567516961	3:155,551,286	C/T	—	uncertain significance
rs749286995	3:155,551,300	A/G	—	uncertain significance
rs199903675	3:155,551,314	T/C	—	uncertain significance
rs1192897708	3:155,551,347	T/A	—	likely benign
rs765123473	3:155,551,362	C/T	—	likely benign
rs773106675	3:155,551,378	T/C	—	likely benign
rs765901673	3:155,551,382	G/C	—	likely benign
rs773852747	3:155,551,639	T/C	—	likely benign
rs2109312898	3:155,551,663	G/C	—	pathogenic
rs1254993967	3:155,551,677	A/C	—	uncertain significance
rs754219844	3:155,551,681	C/T	—	likely benign
rs1308995894	3:155,551,696	G/C	—	pathogenic
rs780161061	3:155,551,705	G/T	—	likely benign
rs1179830564	3:155,551,719	G/T	—	uncertain significance
rs769178808	3:155,551,725	T/C	—	uncertain significance
rs541535125	3:155,551,731	A/G	—	likely benign
rs749048114	3:155,551,740	T/C	—	uncertain significance
rs774185674	3:155,551,752	A/G	—	likely benign
rs2472953740	3:155,551,753	T/C	—	conflicting classifications of pathogenicity
rs771681797	3:155,551,757	G/A	—	uncertain significance
rs1752557153	3:155,551,758	C/A	—	uncertain significance
rs759509587	3:155,551,788	C/T	—	uncertain significance
rs1248630150	3:155,551,791	A/C	—	uncertain significance
rs1449462090	3:155,551,806	C/T	—	uncertain significance
rs1249535334	3:155,551,814	G/A	—	uncertain significance
rs139561128	3:155,551,822	A/G	—	likely benign
rs765678618	3:155,551,826	C/G	—	uncertain significance
rs1752560080	3:155,551,828	A/G	—	likely benign
rs78188825	3:155,551,884	C/T	—	likely benign
rs422497	3:155,551,894	A/G	—	benign
rs76622618	3:155,551,983	G/A	—	likely benign
rs6809229	3:155,551,990	A/G	—	benign
rs1991545	3:155,552,311	G/A	intron variant	—
rs390677	3:155,553,203	C/T	intron variant	—
rs7636224	3:155,553,531	A/T	—	benign
rs77236372	3:155,556,194	G/C	—	—
rs6794232	3:155,557,939	T/C	intron variant	—
rs80209806	3:155,558,781	T/A	intron variant	—
rs1266904735	3:155,560,220	C/T	—	likely pathogenic

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.