SPTLC1

serine palmitoyltransferase long chain base subunit 1

Summary

This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

Known Variants370 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1832954866	9:94,793,440	G/A	—	uncertain significance
rs7035964	9:94,793,445	A/C	—	benign
rs562277733	9:94,793,521	C/A	—	likely benign
rs112076327	9:94,793,577	A/G	—	benign
rs142740904	9:94,793,593	A/G	—	benign
rs1057515685	9:94,793,654	C/T	—	uncertain significance
rs559735773	9:94,793,738	C/A	—	benign
rs1832969371	9:94,793,950	A/C	—	uncertain significance
rs768395365	9:94,793,997	G/A	—	uncertain significance
rs1057515686	9:94,794,116	C/G	—	uncertain significance
rs1057515687	9:94,794,142	A/G	—	uncertain significance
rs994723205	9:94,794,244	G/A	—	uncertain significance
rs115637483	9:94,794,257	T/C	—	benign
rs541284488	9:94,794,264	T/C	—	benign
rs868416931	9:94,794,296	C/T	—	uncertain significance
rs7944	9:94,794,302	T/C	—	likely benign
rs1057515689	9:94,794,547	C/A	—	uncertain significance
rs552433019	9:94,794,557	T/G	—	benign
rs184220566	9:94,794,569	A/T	—	benign
rs189582528	9:94,794,623	T/C	—	likely benign
rs1832995665	9:94,794,747	C/T	—	uncertain significance
rs141292904	9:94,794,758	C/T	—	likely benign
rs537140001	9:94,794,759	G/A	—	likely benign
rs141303429	9:94,794,766	G/A	—	uncertain significance
rs748723735	9:94,794,767	C/A	—	conflicting classifications of pathogenicity
rs2538361981	9:94,794,775	T/C	—	uncertain significance
rs773640417	9:94,794,776	T/C	—	conflicting classifications of pathogenicity
rs150207007	9:94,794,779	T/C	—	uncertain significance
rs150792865	9:94,794,784	G/T	—	uncertain significance
rs761823255	9:94,794,816	T/C	—	likely benign
rs1833000760	9:94,794,821	C/T	—	uncertain significance
rs749165047	9:94,794,822	C/T	—	likely benign
rs1391275819	9:94,794,823	G/A	—	uncertain significance
rs752266889	9:94,794,830	C/T	—	uncertain significance
rs112405383	9:94,794,831	A/G	—	likely benign
rs766180659	9:94,794,836	G/A	—	uncertain significance
rs756268983	9:94,794,841	C/A	—	uncertain significance
rs553040615	9:94,794,844	A/G	—	likely benign
rs375601587	9:94,794,848	C/T	—	likely benign
rs778388513	9:94,794,849	A/G	—	conflicting classifications of pathogenicity
rs148980038	9:94,796,294	G/A	—	likely benign
rs752320059	9:94,797,082	G/A	—	likely benign
rs1486801338	9:94,797,084	C/G	—	likely benign
rs1463416767	9:94,797,092	C/G	—	uncertain significance
rs2538368067	9:94,797,098	G/A	—	uncertain significance
rs2538368082	9:94,797,101	G/A	—	uncertain significance
rs756568148	9:94,797,105	G/A	—	uncertain significance
rs1419597770	9:94,797,108	A/G	—	uncertain significance
rs2118346724	9:94,797,109	C/T	—	likely benign
rs2538368174	9:94,797,119	T/G	—	uncertain significance
rs2538368187	9:94,797,123	C/A	—	uncertain significance
rs143754785	9:94,797,132	G/A	—	conflicting classifications of pathogenicity
rs779262322	9:94,797,133	C/T	—	likely benign
rs755756616	9:94,797,134	G/A	—	uncertain significance
rs1833090020	9:94,797,136	C/T	—	likely benign
rs376427329	9:94,797,161	A/G	—	uncertain significance
rs2538368335	9:94,797,162	T/C	—	uncertain significance
rs1045149538	9:94,797,165	A/G	—	uncertain significance
rs766223452	9:94,797,168	G/A	—	uncertain significance
rs1587899962	9:94,797,169	T/C	—	likely benign
rs1279258320	9:94,797,171	G/A	—	likely benign
rs7863487	9:94,797,172	G/A	—	likely benign
rs1405704198	9:94,797,176	A/G	—	likely benign
rs2538368394	9:94,797,177	A/C	—	likely benign
rs2118347842	9:94,797,182	A/G	—	likely benign
rs775909787	9:94,800,519	C/T	—	likely benign
rs200704785	9:94,800,520	G/A	—	likely benign
rs1172975901	9:94,800,525	C/T	—	uncertain significance
rs762291399	9:94,800,554	T/C	—	likely benign
rs1293065103	9:94,800,558	A/C	—	uncertain significance
rs201413090	9:94,800,563	T/C	—	likely benign
rs1833214197	9:94,800,565	G/A	—	uncertain significance
rs1833214362	9:94,800,566	C/T	—	likely benign
rs750753414	9:94,800,568	C/T	—	uncertain significance
rs376931202	9:94,800,569	G/A	—	likely benign
rs567541925	9:94,800,570	C/T	—	uncertain significance
rs745684683	9:94,800,571	G/A	—	conflicting classifications of pathogenicity
rs568357208	9:94,800,575	C/T	—	likely benign
rs781421635	9:94,800,580	T/C	—	uncertain significance
rs139111476	9:94,800,584	C/T	—	likely benign
rs2118372820	9:94,800,585	T/C	—	uncertain significance
rs764880662	9:94,800,594	T/A	—	uncertain significance
rs369803886	9:94,800,616	G/A	—	conflicting classifications of pathogenicity
rs2118373072	9:94,800,620	C/T	—	likely benign
rs1833217101	9:94,800,621	T/A	—	uncertain significance
rs119482084	9:94,800,624	C/T	missense variant	uncertain significance
rs1298409243	9:94,800,625	C/A	—	uncertain significance
rs373007603	9:94,800,631	C/T	—	uncertain significance
rs1833218770	9:94,800,634	T/C	—	uncertain significance
rs1833219877	9:94,800,648	C/T	—	uncertain significance
rs377583863	9:94,800,653	G/A	—	likely benign
rs1357342455	9:94,800,657	G/C	—	likely benign
rs746824163	9:94,808,267	T/A	—	likely benign
rs76562923	9:94,808,269	T/C	—	benign
rs2118438602	9:94,808,271	T/C	—	likely benign
rs541932144	9:94,808,275	A/G	—	uncertain significance
rs1280089627	9:94,808,291	C/G	—	uncertain significance
rs2538394809	9:94,808,298	A/G	—	likely benign
rs1833501974	9:94,808,304	T/C	—	likely benign
rs147143593	9:94,808,306	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 370 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.