CRAT

carnitine O-acetyltransferase

Summary

This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]

Known Variants223 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10988200	9:131,856,585	C/T	downstream gene variant	—
rs17459086	9:131,857,687	C/G	—	benign
rs760770816	9:131,857,689	C/T	—	uncertain significance
rs551012337	9:131,857,690	G/A	—	uncertain significance
rs149016840	9:131,857,713	C/T	—	uncertain significance
rs143822726	9:131,857,714	G/A	—	uncertain significance
rs1318655829	9:131,857,716	A/G	—	uncertain significance
rs1012240026	9:131,857,727	C/G	—	likely benign
rs751985419	9:131,857,737	A/G	—	uncertain significance
rs762626138	9:131,857,743	T/C	—	uncertain significance
rs779910980	9:131,857,746	G/A	—	uncertain significance
rs753394063	9:131,857,752	C/T	—	uncertain significance
rs777404087	9:131,857,759	C/T	—	uncertain significance
rs2296770	9:131,857,760	G/A	—	likely benign
rs181730785	9:131,857,765	T/C	—	uncertain significance
rs776900643	9:131,857,768	C/T	—	uncertain significance
rs769803786	9:131,857,770	G/A	—	uncertain significance
rs775660177	9:131,857,771	C/T	—	uncertain significance
rs201995132	9:131,857,772	G/A	—	likely benign
rs749869835	9:131,857,773	C/A	—	uncertain significance
rs762335495	9:131,857,787	C/T	—	likely benign
rs767998416	9:131,857,788	G/A	—	uncertain significance
rs764803862	9:131,857,793	G/A	—	likely benign
rs1447459501	9:131,857,819	G/A	—	uncertain significance
rs768880446	9:131,857,823	A/G	—	likely benign
rs774823632	9:131,857,824	T/C	—	uncertain significance
rs1037783792	9:131,857,836	T/C	—	uncertain significance
rs201468277	9:131,857,840	C/T	—	uncertain significance
rs141640684	9:131,857,841	G/C	—	uncertain significance
rs370126379	9:131,857,843	C/T	—	uncertain significance
rs200744083	9:131,857,844	G/A	—	benign
rs575335773	9:131,857,847	G/C	—	likely benign
rs762425351	9:131,857,852	C/T	—	uncertain significance
rs145730542	9:131,857,853	G/A	—	likely benign
rs773745630	9:131,857,858	C/T	—	uncertain significance
rs1232092516	9:131,857,885	C/A	—	uncertain significance
rs564235066	9:131,857,899	C/T	—	likely benign
rs763608596	9:131,858,259	C/T	—	likely benign
rs1847259104	9:131,858,298	G/A	—	likely benign
rs1408409293	9:131,858,306	C/T	—	uncertain significance
rs138759626	9:131,858,312	C/T	—	uncertain significance
rs748290159	9:131,858,336	C/T	—	uncertain significance
rs747519287	9:131,858,351	G/C	—	uncertain significance
rs2490694166	9:131,858,354	C/T	—	uncertain significance
rs771266095	9:131,858,358	G/A	—	likely benign
rs199992155	9:131,858,367	C/A	—	likely benign
rs762922665	9:131,858,375	G/A	—	likely benign
rs567099132	9:131,858,385	G/A	—	likely benign
rs767437298	9:131,858,389	C/T	—	uncertain significance
rs753618242	9:131,858,406	G/A	—	likely benign
rs755208792	9:131,858,408	G/A	—	uncertain significance
rs759318673	9:131,859,516	C/T	—	likely benign
rs775021243	9:131,859,529	C/G	—	uncertain significance
rs752905722	9:131,859,530	C/G	—	uncertain significance
rs764225834	9:131,859,534	C/G	—	uncertain significance
rs781605380	9:131,859,541	G/C	—	likely benign
rs142099725	9:131,859,565	C/T	—	benign
rs770900300	9:131,859,577	C/T	—	likely benign
rs776369491	9:131,859,578	A/C	—	uncertain significance
rs201680363	9:131,860,274	T/C	—	likely benign
rs149498107	9:131,860,292	C/T	—	likely benign
rs745764606	9:131,860,293	G/A	—	uncertain significance
rs775405756	9:131,860,298	G/A	—	likely benign
rs113981850	9:131,860,304	G/A	—	likely benign
rs374685866	9:131,860,306	C/A	—	uncertain significance
rs767455192	9:131,860,328	G/C	—	likely benign
rs140100627	9:131,860,346	C/T	—	likely benign
rs751119057	9:131,860,350	C/T	—	uncertain significance
rs540730402	9:131,860,351	G/A	—	uncertain significance
rs745545439	9:131,860,360	C/T	—	uncertain significance
rs368496291	9:131,860,382	G/A	—	likely benign
rs1480535546	9:131,860,388	G/A	—	likely benign
rs376125366	9:131,860,411	A/C	—	uncertain significance
rs1847405414	9:131,860,416	T/C	—	uncertain significance
rs16930895	9:131,860,421	G/A	—	benign
rs202138376	9:131,860,434	G/A	—	uncertain significance
rs370320116	9:131,860,524	G/A	—	uncertain significance
rs140551503	9:131,860,562	A/G	—	uncertain significance
rs1847419230	9:131,860,564	G/T	—	uncertain significance
rs2490717578	9:131,860,569	T/C	—	likely benign
rs201109466	9:131,860,596	G/T	—	uncertain significance
rs747189121	9:131,860,622	T/C	—	uncertain significance
rs1357634240	9:131,860,648	A/G	—	uncertain significance
rs2131444921	9:131,860,652	T/C	—	uncertain significance
rs368706124	9:131,860,657	G/T	—	likely benign
rs889820107	9:131,860,663	G/A	—	likely benign
rs1286723142	9:131,860,668	G/C	—	likely benign
rs769855775	9:131,860,793	C/T	—	likely benign
rs2490720898	9:131,860,809	C/G	—	uncertain significance
rs2490721270	9:131,860,837	A/T	—	uncertain significance
rs760934837	9:131,860,841	C/T	—	uncertain significance
rs752185041	9:131,860,853	C/T	—	uncertain significance
rs764081352	9:131,860,855	G/C	—	uncertain significance
rs2490721870	9:131,860,862	T/C	—	uncertain significance
rs1332156854	9:131,860,864	T/C	—	uncertain significance
rs751354831	9:131,860,870	C/T	—	uncertain significance
rs149214173	9:131,860,877	T/C	—	uncertain significance
rs199671905	9:131,860,899	C/G	—	likely benign
rs3118635	9:131,860,901	G/T	—	benign
rs1847446667	9:131,860,903	G/A	—	uncertain significance

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.