REEP1

receptor accessory protein 1

Summary

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Known Variants314 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2288122	2:86,441,085	G/T	—	benign
rs17438464	2:86,441,167	A/G	—	likely benign
rs1351975670	2:86,441,195	G/C	—	uncertain significance
rs1673982491	2:86,441,266	G/A	—	uncertain significance
rs708600	2:86,441,303	C/A	—	benign
rs1673985889	2:86,441,312	A/C	—	uncertain significance
rs7580424	2:86,441,337	T/G	—	benign
rs567893414	2:86,441,378	C/T	—	benign
rs57249135	2:86,441,396	A/G	—	benign
rs886056396	2:86,441,429	T/G	—	uncertain significance
rs11902617	2:86,441,583	A/G	—	likely benign
rs886056397	2:86,441,604	T/C	—	uncertain significance
rs115098584	2:86,441,649	C/T	—	likely benign
rs146273697	2:86,441,677	C/T	—	benign
rs77055865	2:86,441,705	C/G	—	likely benign
rs535813756	2:86,441,728	C/G	—	uncertain significance
rs551489805	2:86,441,782	G/A	—	uncertain significance
rs1674009181	2:86,441,805	T/C	—	uncertain significance
rs533698310	2:86,441,852	G/A	—	uncertain significance
rs772358643	2:86,441,962	G/T	—	uncertain significance
rs558708657	2:86,441,973	G/T	—	uncertain significance
rs58401741	2:86,442,031	C/T	—	likely benign
rs144937908	2:86,442,175	C/T	—	benign
rs886056405	2:86,442,309	T/A	—	uncertain significance
rs1173252698	2:86,442,343	C/T	—	uncertain significance
rs766272571	2:86,442,429	A/G	—	uncertain significance
rs993162388	2:86,442,460	G/A	—	uncertain significance
rs3731817	2:86,442,548	C/T	—	likely benign
rs1674055590	2:86,442,594	A/T	—	uncertain significance
rs764271301	2:86,442,629	C/G	—	uncertain significance
rs896373341	2:86,442,636	T/A	—	uncertain significance
rs886056406	2:86,442,643	A/G	—	uncertain significance
rs368970831	2:86,442,727	C/T	—	uncertain significance
rs116705276	2:86,442,747	C/A	—	likely benign
rs577908626	2:86,442,764	C/T	—	benign
rs141138007	2:86,442,832	T/A	—	benign
rs3731816	2:86,442,837	A/G	—	likely benign
rs12328643	2:86,442,905	G/A	—	benign
rs190070319	2:86,442,945	T/C	—	likely benign
rs886056407	2:86,442,999	T/C	—	uncertain significance
rs1674088022	2:86,443,043	C/T	—	uncertain significance
rs76860896	2:86,443,197	C/T	—	likely benign
rs17510310	2:86,443,208	T/C	—	likely benign
rs140533240	2:86,443,256	G/A	—	benign
rs1293776179	2:86,443,298	A/G	—	uncertain significance
rs1674107152	2:86,443,375	C/G	—	uncertain significance
rs150465452	2:86,443,425	G/A	—	likely benign
rs142894251	2:86,443,499	C/G	—	benign
rs941801751	2:86,443,504	G/C	—	uncertain significance
rs60838463	2:86,443,532	C/T	—	likely benign
rs145058780	2:86,443,653	A/G	—	benign
rs1033340030	2:86,443,944	G/A	—	uncertain significance
rs1674140828	2:86,444,038	G/C	—	uncertain significance
rs141976852	2:86,444,068	A/G	—	conflicting classifications of pathogenicity
rs1486206487	2:86,444,069	C/T	—	uncertain significance
rs904027097	2:86,444,080	C/T	—	uncertain significance
rs772580203	2:86,444,158	T/C	—	uncertain significance
rs778184639	2:86,444,164	A/C	—	uncertain significance
rs189652973	2:86,444,173	C/T	regulatory region variant	pathogenic
rs201177149	2:86,444,174	G/A	—	likely benign
rs377637314	2:86,444,180	C/A	regulatory region variant	pathogenic
rs148490065	2:86,444,181	G/A	—	uncertain significance
rs375445585	2:86,444,209	G/A	regulatory region variant	uncertain significance
rs200537429	2:86,444,211	G/A	—	uncertain significance
rs2103944404	2:86,444,223	C/T	—	likely benign
rs587781248	2:86,444,224	T/C	stop lost	pathogenic
rs2103944449	2:86,444,225	A/C	—	uncertain significance
rs1373170665	2:86,444,228	C/T	—	uncertain significance
rs758721888	2:86,444,229	G/A	—	likely benign
rs1674154288	2:86,444,233	C/T	—	uncertain significance
rs778272381	2:86,444,237	G/C	—	likely benign
rs1356865335	2:86,444,238	T/C	—	likely benign
rs182467924	2:86,444,249	G/A	—	benign
rs886038677	2:86,444,250	A/C	—	benign
rs141722767	2:86,444,252	A/C	—	benign
rs3731815	2:86,444,518	T/G	—	likely benign
rs914629625	2:86,447,161	C/T	—	uncertain significance
rs2468628150	2:86,447,193	T/G	—	uncertain significance
rs114624321	2:86,459,593	G/A	—	likely benign
rs151059099	2:86,459,686	G/A	—	likely benign
rs115971425	2:86,459,734	A/G	—	likely benign
rs1281247920	2:86,459,744	C/T	—	uncertain significance
rs869312880	2:86,459,747	C/T	—	pathogenic
rs757800031	2:86,459,760	C/A	—	uncertain significance
rs540194528	2:86,459,761	G/T	—	uncertain significance
rs1454076238	2:86,459,773	A/G	—	likely benign
rs1425896792	2:86,459,774	C/T	—	uncertain significance
rs1378939892	2:86,459,782	C/T	—	uncertain significance
rs2468707545	2:86,459,783	A/G	—	uncertain significance
rs2104051740	2:86,459,793	G/A	—	conflicting classifications of pathogenicity
rs768890728	2:86,459,796	C/T	—	conflicting classifications of pathogenicity
rs750448825	2:86,459,797	G/A	—	likely benign
rs1675091136	2:86,459,798	T/G	—	uncertain significance
rs1356444998	2:86,459,799	G/A	—	uncertain significance
rs1039369434	2:86,459,801	T/G	—	uncertain significance
rs1218144193	2:86,459,803	G/A	—	likely benign
rs748917788	2:86,459,805	C/T	—	uncertain significance
rs201564869	2:86,459,806	G/A	—	conflicting classifications of pathogenicity
rs1333042512	2:86,459,813	C/T	—	uncertain significance
rs144874997	2:86,459,814	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 314 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.