AGPS

alkylglycerone phosphate synthase

Summary

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

Known Variants614 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3813259	2:178,257,214	G/A	—	benign
rs6731209	2:178,257,352	G/C	—	benign
rs187003888	2:178,257,359	G/A	—	likely benign
rs113671272	2:178,257,391	G/A	—	benign
rs752946440	2:178,257,504	A/G	—	uncertain significance
rs946047503	2:178,257,522	C/A	—	uncertain significance
rs755836525	2:178,257,523	G/A	—	likely benign
rs1042389328	2:178,257,524	G/A	—	uncertain significance
rs2468486436	2:178,257,526	G/A	—	likely benign
rs1035761521	2:178,257,527	G/T	—	uncertain significance
rs1233318758	2:178,257,531	C/T	—	uncertain significance
rs1253302823	2:178,257,532	G/C	—	likely benign
rs539573652	2:178,257,537	C/T	—	conflicting classifications of pathogenicity
rs370124842	2:178,257,543	G/C	—	uncertain significance
rs2105575877	2:178,257,544	T/A	—	likely benign
rs1434528840	2:178,257,547	G/C	—	likely benign
rs745337315	2:178,257,550	T/A	—	likely benign
rs2105575900	2:178,257,551	G/C	—	uncertain significance
rs557931141	2:178,257,552	G/A	—	likely benign
rs1685055537	2:178,257,553	C/T	—	likely benign
rs1400544926	2:178,257,554	T/C	—	likely benign
rs1217837187	2:178,257,557	G/T	—	uncertain significance
rs1685056452	2:178,257,562	G/C	—	likely benign
rs771444195	2:178,257,565	C/A	—	likely benign
rs1055974652	2:178,257,568	G/T	—	likely benign
rs774742400	2:178,257,571	C/T	—	likely benign
rs1346009699	2:178,257,574	C/T	—	likely benign
rs1296401827	2:178,257,577	G/T	—	likely benign
rs759572190	2:178,257,581	G/A	—	conflicting classifications of pathogenicity
rs767584572	2:178,257,582	C/G	—	conflicting classifications of pathogenicity
rs775627182	2:178,257,586	G/A	—	likely benign
rs2105576037	2:178,257,588	A/T	—	uncertain significance
rs923081006	2:178,257,589	C/T	—	likely benign
rs1574332708	2:178,257,592	G/A	—	likely benign
rs2105576052	2:178,257,594	A/T	—	uncertain significance
rs2105576057	2:178,257,595	C/T	—	likely benign
rs1685058142	2:178,257,597	G/C	—	uncertain significance
rs983185273	2:178,257,598	G/A	—	likely benign
rs764286061	2:178,257,600	A/T	—	uncertain significance
rs1574332722	2:178,257,601	C/T	—	likely benign
rs1685058706	2:178,257,606	A/T	—	uncertain significance
rs1283207251	2:178,257,607	C/T	—	likely benign
rs753648705	2:178,257,610	G/T	—	likely benign
rs757027567	2:178,257,613	C/T	—	likely benign
rs1239587809	2:178,257,622	G/A	—	likely benign
rs886055163	2:178,257,625	G/A	—	uncertain significance
rs765185697	2:178,257,632	C/T	—	uncertain significance
rs1441744811	2:178,257,634	G/T	—	likely benign
rs2105576168	2:178,257,637	T/C	—	likely benign
rs1359929229	2:178,257,640	C/G	—	likely benign
rs2468486789	2:178,257,650	C/T	—	likely benign
rs1685060532	2:178,257,653	C/T	—	likely benign
rs1345248171	2:178,257,658	C/A	—	likely benign
rs757924179	2:178,257,663	C/T	—	uncertain significance
rs34442536	2:178,257,664	C/T	—	likely benign
rs778087162	2:178,257,665	C/T	—	conflicting classifications of pathogenicity
rs754647491	2:178,257,666	G/A	—	conflicting classifications of pathogenicity
rs780755840	2:178,257,670	G/A	—	likely benign
rs77810072	2:178,257,674	C/T	—	likely benign
rs2105576243	2:178,257,676	G/C	—	likely benign
rs1462668353	2:178,257,677	A/T	—	uncertain significance
rs2105576261	2:178,257,683	A/G	—	uncertain significance
rs184178361	2:178,257,697	G/A	—	likely benign
rs771230948	2:178,257,700	G/A	—	likely benign
rs990214554	2:178,257,703	A/G	—	benign
rs2105576310	2:178,257,706	C/T	—	likely benign
rs1218586614	2:178,257,709	G/C	—	likely benign
rs2468486985	2:178,257,711	C/T	—	uncertain significance
rs774854340	2:178,257,714	C/T	—	uncertain significance
rs1454806934	2:178,257,717	C/T	—	uncertain significance
rs1280535009	2:178,257,718	C/T	—	likely benign
rs1010744857	2:178,257,721	G/C	—	likely benign
rs34744592	2:178,257,724	G/A	—	benign
rs967836221	2:178,257,725	G/A	—	uncertain significance
rs2468487052	2:178,257,730	C/T	—	likely benign
rs560217758	2:178,257,731	A/G	—	uncertain significance
rs1685064821	2:178,257,742	C/G	—	likely benign
rs1375681821	2:178,257,745	C/T	—	likely benign
rs576982787	2:178,257,748	G/A	—	likely benign
rs200828998	2:178,257,756	C/T	—	uncertain significance
rs1685066171	2:178,257,757	G/T	—	likely benign
rs1017560245	2:178,257,760	C/T	—	likely benign
rs2105576457	2:178,257,763	C/A	—	likely benign
rs1685066744	2:178,257,775	G/A	—	likely benign
rs2468487152	2:178,257,784	A/G	—	likely benign
rs1237853005	2:178,257,785	G/T	—	likely benign
rs2105576480	2:178,257,786	C/T	—	likely benign
rs761606701	2:178,257,787	G/C	—	likely benign
rs562634392	2:178,257,792	G/A	—	likely benign
rs114901772	2:178,257,839	A/C	—	benign
rs75637652	2:178,258,101	T/C	—	benign
rs138941129	2:178,284,822	T/C	—	likely benign
rs180723901	2:178,284,979	A/G	—	likely benign
rs1039108067	2:178,284,987	T/A	—	likely benign
rs1165107597	2:178,284,989	C/T	—	likely benign
rs780856707	2:178,284,991	C/T	—	likely benign
rs73029113	2:178,284,992	A/C	—	benign
rs999450405	2:178,284,993	C/T	—	likely benign
rs1194466271	2:178,285,021	A/G	—	likely benign
rs1685908703	2:178,285,024	G/A	—	likely pathogenic

Showing 100 of 614 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.