CYP24A1

cytochrome P450 family 24 subfamily A member 1

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants281 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6091822	20:52,762,435	G/C	—	—
rs8124792	20:52,766,807	G/A	downstream gene variant	—
rs2762932	20:52,768,391	T/A	—	—
rs4811494	20:52,769,984	C/T	—	benign
rs543296744	20:52,770,023	T/C	—	uncertain significance
rs149240951	20:52,770,176	G/A	—	uncertain significance
rs564857266	20:52,770,189	T/G	—	uncertain significance
rs886056780	20:52,770,216	G/C	—	uncertain significance
rs531896457	20:52,770,220	G/A	—	uncertain significance
rs886056781	20:52,770,297	G/A	—	uncertain significance
rs118099730	20:52,770,324	A/G	—	uncertain significance
rs182056037	20:52,770,426	A/C	—	benign
rs11907350	20:52,770,439	G/A	—	benign
rs886056782	20:52,770,473	A/C	—	uncertain significance
rs371011704	20:52,770,563	C/T	—	uncertain significance
rs75213738	20:52,770,595	C/T	—	benign
rs6022987	20:52,770,596	G/C	—	benign
rs2092618847	20:52,770,762	T/A	—	uncertain significance
rs922871712	20:52,770,786	G/A	—	uncertain significance
rs886056784	20:52,770,793	T/C	—	uncertain significance
rs761330571	20:52,770,857	C/T	—	uncertain significance
rs16999060	20:52,770,873	G/A	—	benign
rs886056785	20:52,770,936	T/C	—	uncertain significance
rs181138149	20:52,770,994	A/G	—	uncertain significance
rs546594298	20:52,771,067	G/A	—	uncertain significance
rs922900713	20:52,771,094	T/C	—	uncertain significance
rs4809957	20:52,771,171	A/G	3 prime UTR variant	benign
rs560443324	20:52,771,231	T/C	—	uncertain significance
rs16999067	20:52,771,234	A/C	—	benign
rs552552032	20:52,771,260	C/T	—	uncertain significance
rs2762934	20:52,771,261	G/A	3 prime UTR variant	benign
rs927650	20:52,772,741	T/C	intron variant	—
rs6097809	20:52,773,510	T/C	—	benign
rs6097810	20:52,773,634	T/C	—	benign
rs778326571	20:52,773,723	G/A	—	uncertain significance
rs1225652345	20:52,773,728	C/T	—	uncertain significance
rs150155645	20:52,773,733	C/T	—	likely benign
rs116065115	20:52,773,734	G/A	—	benign
rs1475780594	20:52,773,735	C/T	—	uncertain significance
rs61730999	20:52,773,736	G/A	—	benign
rs765472830	20:52,773,738	T/C	—	uncertain significance
rs866890144	20:52,773,744	G/T	—	uncertain significance
rs775698372	20:52,773,745	T/A	—	uncertain significance
rs773181675	20:52,773,750	G/C	—	uncertain significance
rs766440228	20:52,773,755	G/A	—	conflicting classifications of pathogenicity
rs2516344415	20:52,773,756	G/C	—	uncertain significance
rs2516344485	20:52,773,761	A/T	—	uncertain significance
rs543572030	20:52,773,763	G/A	—	conflicting classifications of pathogenicity
rs2092631703	20:52,773,773	T/G	—	uncertain significance
rs1486194403	20:52,773,796	G/C	—	uncertain significance
rs531438091	20:52,773,803	G/A	—	likely benign
rs776534674	20:52,773,813	C/T	—	uncertain significance
rs73135773	20:52,773,814	G/A	—	uncertain significance
rs770923423	20:52,773,817	T/C	—	likely benign
rs59241115	20:52,773,842	G/A	—	benign
rs200943520	20:52,773,844	A/G	—	benign
rs759582983	20:52,773,922	T/G	—	likely benign
rs988715134	20:52,773,965	G/A	—	pathogenic
rs539392099	20:52,773,967	C/T	—	uncertain significance
rs750898889	20:52,773,971	C/G	—	uncertain significance
rs201594722	20:52,773,974	T/C	—	uncertain significance
rs112596218	20:52,773,992	C/T	—	uncertain significance
rs748429181	20:52,773,995	C/G	—	uncertain significance
rs886056786	20:52,774,000	G/A	—	uncertain significance
rs775504814	20:52,774,008	C/T	—	conflicting classifications of pathogenicity
rs2092633467	20:52,774,041	C/T	—	pathogenic
rs374292194	20:52,774,046	G/A	—	conflicting classifications of pathogenicity
rs753140812	20:52,774,051	G/T	—	uncertain significance
rs555995872	20:52,774,063	C/A	—	uncertain significance
rs747021572	20:52,774,073	C/T	—	uncertain significance
rs368194785	20:52,774,079	T/C	—	uncertain significance
rs2146464297	20:52,774,093	C/A	—	uncertain significance
rs2516346623	20:52,774,102	T/G	—	uncertain significance
rs2092633894	20:52,774,107	A/G	—	uncertain significance
rs1570669	20:52,774,427	A/G	intron variant	benign
rs1977297	20:52,774,479	C/T	—	benign
rs1570670	20:52,774,579	A/G	—	benign
rs2274130	20:52,774,601	A/G	—	benign
rs34687513	20:52,774,612	A/G	—	likely benign
rs2092636072	20:52,774,625	T/C	—	likely benign
rs376936695	20:52,774,626	C/T	—	uncertain significance
rs6068812	20:52,774,635	A/G	missense variant	pathogenic
rs140189382	20:52,774,642	A/T	—	uncertain significance
rs373243941	20:52,774,654	C/T	—	uncertain significance
rs781092271	20:52,774,670	A/T	—	likely benign
rs143934667	20:52,774,674	C/T	—	pathogenic
rs114368325	20:52,774,675	G/A	missense variant	pathogenic
rs373504037	20:52,774,697	C/T	—	conflicting classifications of pathogenicity
rs2274131	20:52,774,883	C/T	—	benign
rs2274132	20:52,774,903	G/A	—	benign
rs2296237	20:52,775,292	G/A	—	benign
rs2296238	20:52,775,318	C/T	—	benign
rs199702142	20:52,775,481	G/A	—	likely benign
rs745557349	20:52,775,491	C/T	—	uncertain significance
rs2516352608	20:52,775,494	A/T	—	likely pathogenic
rs777011420	20:52,775,506	C/G	—	pathogenic
rs150006710	20:52,775,514	C/T	—	uncertain significance
rs2296239	20:52,775,528	C/T	synonymous variant	benign
rs189801930	20:52,775,529	G/A	—	uncertain significance
rs6022990	20:52,775,532	A/G	missense variant	benign

Showing 100 of 281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.