CPT2

carnitine palmitoyltransferase 2

Summary

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

Known Variants761 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143388468	1:53,661,918	C/G	—	likely benign
rs10888776	1:53,661,966	A/G	—	benign
rs7545725	1:53,662,139	C/T	—	likely benign
rs17848481	1:53,662,155	T/C	—	uncertain significance
rs577034240	1:53,662,331	C/A	—	uncertain significance
rs886046402	1:53,662,334	C/T	—	uncertain significance
rs548768045	1:53,662,374	G/C	—	uncertain significance
rs886046403	1:53,662,387	G/T	—	uncertain significance
rs886046404	1:53,662,400	A/G	—	uncertain significance
rs886046405	1:53,662,499	G/T	—	uncertain significance
rs886046406	1:53,662,515	C/A	—	uncertain significance
rs1572378219	1:53,662,621	G/A	—	likely benign
rs1645324758	1:53,662,622	C/T	—	uncertain significance
rs915522897	1:53,662,624	C/T	—	likely benign
rs1553168843	1:53,662,627	C/G	—	uncertain significance
rs1443908294	1:53,662,630	G/C	—	likely benign
rs2525557916	1:53,662,636	G/T	—	likely benign
rs1645324918	1:53,662,641	C/T	—	uncertain significance
rs2525557943	1:53,662,644	G/A	—	likely pathogenic
rs947016530	1:53,662,645	G/T	—	uncertain significance
rs1173716908	1:53,662,648	C/G	—	likely benign
rs1270720547	1:53,662,649	C/T	—	uncertain significance
rs1044059386	1:53,662,650	G/A	—	uncertain significance
rs1350688021	1:53,662,651	G/C	—	likely benign
rs1279681106	1:53,662,654	C/A	—	likely benign
rs2100254731	1:53,662,655	C/T	—	uncertain significance
rs570576290	1:53,662,657	C/T	—	likely benign
rs761850684	1:53,662,660	G/T	—	conflicting classifications of pathogenicity
rs1469396631	1:53,662,661	G/T	—	uncertain significance
rs2100254762	1:53,662,664	G/T	—	uncertain significance
rs1176581459	1:53,662,668	C/T	—	uncertain significance
rs2525558132	1:53,662,669	G/C	—	likely benign
rs938409577	1:53,662,671	G/A	—	uncertain significance
rs2525558142	1:53,662,672	A/G	—	likely benign
rs533282672	1:53,662,674	C/T	—	uncertain significance
rs2100254803	1:53,662,675	C/T	—	likely benign
rs1399429530	1:53,662,677	C/A	—	uncertain significance
rs1645327051	1:53,662,679	A/T	—	likely benign
rs1057287341	1:53,662,680	G/A	—	uncertain significance
rs2100254831	1:53,662,681	T/C	—	likely benign
rs1329055231	1:53,662,682	C/G	—	uncertain significance
rs1353591461	1:53,662,684	G/T	—	likely benign
rs926538202	1:53,662,687	C/T	—	likely benign
rs2100254861	1:53,662,689	T/C	—	uncertain significance
rs2525558249	1:53,662,690	C/G	—	likely benign
rs1057517493	1:53,662,690	—	—	pathogenic
rs1235656058	1:53,662,697	G/C	—	uncertain significance
rs772541454	1:53,662,699	C/T	—	conflicting classifications of pathogenicity
rs1342928062	1:53,662,700	T/G	—	uncertain significance
rs1350053065	1:53,662,701	C/G	—	uncertain significance
rs2525558321	1:53,662,702	C/T	—	likely benign
rs937940197	1:53,662,703	G/T	—	uncertain significance
rs1572378353	1:53,662,704	G/A	—	uncertain significance
rs2100254924	1:53,662,705	G/C	—	likely benign
rs1216427183	1:53,662,706	C/T	—	uncertain significance
rs1056264696	1:53,662,708	C/T	—	likely benign
rs1196469539	1:53,662,714	G/C	—	uncertain significance
rs1317793581	1:53,662,717	C/G	—	pathogenic
rs2929073	1:53,662,718	C/T	—	likely benign
rs773734918	1:53,662,723	G/A	—	likely benign
rs1645327746	1:53,662,724	C/T	—	uncertain significance
rs1557712092	1:53,662,726	C/G	—	likely benign
rs760976212	1:53,662,737	C/A	—	uncertain significance
rs898278662	1:53,662,738	C/A	—	likely benign
rs1645327853	1:53,662,741	C/T	—	likely benign
rs995114769	1:53,662,745	C/T	—	uncertain significance
rs1370744119	1:53,662,746	A/G	—	uncertain significance
rs1321783611	1:53,662,748	T/C	—	uncertain significance
rs1645327989	1:53,662,750	C/G	—	pathogenic
rs1250983045	1:53,662,758	G/A	—	uncertain significance
rs2100255084	1:53,662,759	C/A	—	uncertain significance
rs1645328186	1:53,662,762	G/A	—	likely benign
rs2525558524	1:53,662,763	C/T	—	likely pathogenic
rs28936375	1:53,662,764	C/A	missense variant	pathogenic
rs1427735577	1:53,662,767	G/T	—	uncertain significance
rs2100255111	1:53,662,768	G/T	—	likely pathogenic
rs886046407	1:53,662,770	G/A	—	uncertain significance
rs1397098803	1:53,662,772	G/A	—	conflicting classifications of pathogenicity
rs1442160283	1:53,662,774	C/T	—	likely benign
rs1194125109	1:53,662,779	C/T	—	likely benign
rs2100255165	1:53,662,780	T/C	—	likely benign
rs1329892946	1:53,662,782	C/T	—	likely benign
rs72673121	1:53,662,823	C/A	—	benign
rs116571455	1:53,662,949	C/T	—	likely benign
rs12754957	1:53,666,108	T/C	—	benign
rs2525566713	1:53,666,380	T/C	—	likely benign
rs1389134827	1:53,666,386	C/T	—	likely benign
rs2100259763	1:53,666,387	C/G	—	likely benign
rs2525566739	1:53,666,393	T/C	—	uncertain significance
rs1319637411	1:53,666,397	T/C	—	likely benign
rs2525566753	1:53,666,401	C/T	—	uncertain significance
rs2100259793	1:53,666,402	C/G	—	uncertain significance
rs2525566763	1:53,666,403	C/A	—	likely benign
rs2100259802	1:53,666,408	T/C	—	uncertain significance
rs2525566791	1:53,666,410	G/C	—	uncertain significance
rs2525566797	1:53,666,412	A/G	—	likely benign
rs755209043	1:53,666,415	C/T	—	likely benign
rs1645349730	1:53,666,418	C/T	—	likely benign
rs2525566830	1:53,666,425	A/T	—	likely pathogenic
rs748182542	1:53,666,426	G/T	—	pathogenic

Showing 100 of 761 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.