SPPL2A

signal peptide peptidase like 2A

Summary

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

Known Variants262 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12903573	15:50,994,350	C/T	intergenic variant	—
rs1258217922	15:51,000,002	G/A	—	uncertain significance
rs146593203	15:51,000,006	G/C	—	benign
rs1478676191	15:51,000,014	G/C	—	uncertain significance
rs2542777449	15:51,000,043	T/C	—	uncertain significance
rs770693796	15:51,000,050	C/T	—	uncertain significance
rs759473205	15:51,000,077	C/A	—	likely benign
rs776734539	15:51,000,090	C/A	—	likely benign
rs918454523	15:51,000,091	G/A	—	likely benign
rs12440864	15:51,005,957	A/G	intron variant	—
rs12906219	15:51,006,910	A/G	intron variant	—
rs8030153	15:51,007,009	G/C	—	—
rs62018764	15:51,007,334	G/C	intron variant	—
rs2141024809	15:51,012,118	C/T	—	likely benign
rs755682786	15:51,012,124	T/C	—	likely benign
rs2542797237	15:51,012,136	C/A	—	uncertain significance
rs370526290	15:51,012,145	T/C	—	uncertain significance
rs780440421	15:51,012,152	T/C	—	likely benign
rs772099878	15:51,012,166	T/G	—	uncertain significance
rs775390031	15:51,012,177	C/T	—	uncertain significance
rs748291215	15:51,012,178	G/A	—	uncertain significance
rs747163826	15:51,012,194	T/C	—	likely benign
rs145209254	15:51,012,201	G/C	—	benign
rs768206623	15:51,012,210	G/C	—	uncertain significance
rs2542797470	15:51,012,215	A/T	—	likely benign
rs753190221	15:51,012,216	G/A	—	uncertain significance
rs574519922	15:51,012,223	A/C	—	uncertain significance
rs2542797540	15:51,012,232	G/C	—	uncertain significance
rs137902988	15:51,012,245	C/T	—	likely benign
rs2542797597	15:51,012,253	T/C	—	uncertain significance
rs778411884	15:51,012,255	A/G	—	uncertain significance
rs140685887	15:51,012,256	G/T	—	uncertain significance
rs2542797626	15:51,012,262	G/A	—	likely benign
rs746888742	15:51,012,273	G/A	—	uncertain significance
rs926490151	15:51,012,278	T/C	—	uncertain significance
rs2542797705	15:51,012,281	C/T	—	uncertain significance
rs2141024987	15:51,012,298	C/T	—	pathogenic
rs2141024989	15:51,012,307	G/T	—	uncertain significance
rs1336411593	15:51,012,310	T/C	—	likely benign
rs201715278	15:51,012,316	G/A	—	likely benign
rs779773104	15:51,014,301	A/T	—	likely benign
rs751528534	15:51,014,303	A/C	—	likely benign
rs199712140	15:51,014,309	A/G	—	benign
rs780968695	15:51,014,331	C/A	—	uncertain significance
rs2542802462	15:51,014,341	T/C	—	uncertain significance
rs1296167278	15:51,014,347	T/C	—	uncertain significance
rs776039597	15:51,014,358	A/G	—	likely benign
rs116939379	15:51,014,367	A/T	—	likely benign
rs1475503053	15:51,014,372	A/G	—	uncertain significance
rs199527244	15:51,014,374	C/A	—	uncertain significance
rs2062653836	15:51,014,377	C/G	—	uncertain significance
rs1455180988	15:51,014,379	A/G	—	likely benign
rs751404155	15:51,014,385	T/G	—	likely benign
rs1319983470	15:51,014,386	G/A	—	uncertain significance
rs2542802720	15:51,014,396	G/A	—	likely benign
rs778820636	15:51,014,411	A/G	—	likely benign
rs12913259	15:51,014,716	C/T	intron variant	—
rs1050952087	15:51,017,402	T/G	—	likely benign
rs2542806716	15:51,017,415	T/G	—	uncertain significance
rs759339570	15:51,017,448	T/C	—	uncertain significance
rs767169143	15:51,017,455	A/G	—	likely benign
rs1487304011	15:51,017,456	G/A	—	uncertain significance
rs2542806793	15:51,017,463	G/A	—	uncertain significance
rs2062676889	15:51,017,464	G/A	—	likely benign
rs376055592	15:51,017,479	T/C	—	likely benign
rs2542806826	15:51,017,480	G/A	—	uncertain significance
rs764073564	15:51,017,486	T/C	—	uncertain significance
rs140457962	15:51,017,488	G/T	—	likely benign
rs764292491	15:51,017,500	T/C	—	likely benign
rs1409622456	15:51,017,524	T/C	—	uncertain significance
rs780424318	15:51,017,525	T/C	—	likely benign
rs1455207116	15:51,017,527	A/G	—	likely benign
rs1357756230	15:51,017,529	A/G	—	likely benign
rs12910371	15:51,017,577	G/A	—	benign
rs2062687479	15:51,018,506	T/C	—	likely benign
rs2542808788	15:51,018,511	T/A	—	likely benign
rs2542808834	15:51,018,538	G/A	—	uncertain significance
rs550930877	15:51,018,547	C/T	—	uncertain significance
rs374979239	15:51,018,548	G/A	—	likely benign
rs149311149	15:51,018,556	C/T	—	uncertain significance
rs901805653	15:51,018,564	C/T	—	uncertain significance
rs199669835	15:51,018,568	C/T	—	uncertain significance
rs118053549	15:51,018,578	C/A	—	benign
rs951952990	15:51,018,581	T/C	—	uncertain significance
rs757812827	15:51,023,155	G/C	—	likely benign
rs371976573	15:51,023,170	T/C	—	uncertain significance
rs2141034480	15:51,023,179	T/A	—	uncertain significance
rs746618778	15:51,023,180	T/C	—	uncertain significance
rs768598919	15:51,023,183	G/A	—	likely benign
rs1322444174	15:51,023,193	A/G	—	uncertain significance
rs76947817	15:51,023,216	G/T	—	likely benign
rs551876182	15:51,023,220	A/G	—	uncertain significance
rs760927737	15:51,023,227	T/C	—	uncertain significance
rs757616857	15:51,023,246	A/G	—	likely benign
rs114940488	15:51,023,253	C/T	—	benign
rs2141036149	15:51,024,780	A/G	—	likely benign
rs754724848	15:51,024,787	T/C	—	likely benign
rs2062739691	15:51,024,799	C/T	—	uncertain significance
rs1301303323	15:51,024,809	G/A	—	likely benign
rs200572932	15:51,024,819	A/G	—	uncertain significance

Showing 100 of 262 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.