MOCS2

molybdenum cofactor synthesis 2

Summary

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]

Known Variants284 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116368818	5:52,391,532	T/C	—	likely benign
rs968123262	5:52,391,555	C/A	—	uncertain significance
rs367795073	5:52,391,757	T/G	—	uncertain significance
rs188004174	5:52,391,760	C/G	—	uncertain significance
rs150871292	5:52,391,781	C/A	—	benign
rs1245765953	5:52,391,823	C/G	—	uncertain significance
rs183405612	5:52,392,075	A/G	—	likely benign
rs1740744067	5:52,392,514	T/C	—	uncertain significance
rs73756617	5:52,392,759	A/G	—	benign
rs12152954	5:52,392,774	C/T	—	uncertain significance
rs567430116	5:52,392,887	C/T	—	uncertain significance
rs16880873	5:52,392,888	G/T	—	benign
rs538696423	5:52,392,949	G/A	—	uncertain significance
rs940251540	5:52,393,008	C/T	—	uncertain significance
rs200541821	5:52,393,148	G/C	—	uncertain significance
rs549157684	5:52,393,265	C/T	—	uncertain significance
rs1445940	5:52,393,421	C/T	—	benign
rs1041159861	5:52,393,556	A/G	—	uncertain significance
rs546218674	5:52,393,595	A/G	—	uncertain significance
rs144697442	5:52,393,697	C/T	—	benign
rs1334537812	5:52,393,710	A/G	—	uncertain significance
rs570413748	5:52,393,759	T/A	—	uncertain significance
rs750555510	5:52,393,781	C/T	—	uncertain significance
rs41308287	5:52,393,866	A/G	—	benign
rs886060695	5:52,393,900	C/T	—	uncertain significance
rs1740795184	5:52,393,914	G/A	—	uncertain significance
rs753919594	5:52,394,060	C/T	—	uncertain significance
rs140347326	5:52,394,061	G/A	—	benign
rs755058697	5:52,394,088	G/A	—	uncertain significance
rs2233223	5:52,394,289	C/T	—	uncertain significance
rs967379249	5:52,394,310	C/T	—	uncertain significance
rs374748835	5:52,394,400	G/C	—	uncertain significance
rs121908609	5:52,394,432	T/G	stop lost	pathogenic
rs2233221	5:52,394,439	T/C	—	benign
rs768042301	5:52,394,444	T/A	—	likely benign
rs747390142	5:52,394,449	A/C	—	uncertain significance
rs1740820150	5:52,394,459	T/C	—	likely benign
rs200534063	5:52,394,460	T/C	—	uncertain significance
rs773157839	5:52,394,465	T/C	—	likely benign
rs1390536382	5:52,394,468	T/C	—	likely benign
rs1394110943	5:52,394,476	T/C	—	uncertain significance
rs1311515382	5:52,394,480	T/C	—	likely benign
rs1246273723	5:52,394,485	C/G	—	uncertain significance
rs1740821964	5:52,394,487	T/C	—	uncertain significance
rs766166640	5:52,394,488	C/T	—	uncertain significance
rs77310478	5:52,394,489	G/A	—	likely benign
rs755284842	5:52,394,490	T/C	—	uncertain significance
rs1040253480	5:52,394,492	T/C	—	uncertain significance
rs121908605	5:52,394,497	C/T	missense variant	pathogenic
rs1561172211	5:52,394,500	A/G	—	likely benign
rs1200272041	5:52,394,504	A/C	—	likely benign
rs2478590757	5:52,394,511	T/C	—	likely benign
rs575030858	5:52,394,512	C/T	—	likely benign
rs1180374290	5:52,394,516	A/G	—	likely benign
rs77483676	5:52,395,039	T/C	downstream gene variant	—
rs760670266	5:52,396,222	T/C	—	likely benign
rs1251411773	5:52,396,234	A/T	—	likely benign
rs1740874146	5:52,396,237	T/C	—	uncertain significance
rs770698862	5:52,396,241	C/T	—	uncertain significance
rs776534922	5:52,396,243	T/G	—	uncertain significance
rs534504858	5:52,396,255	G/A	—	uncertain significance
rs1740875690	5:52,396,263	G/A	—	uncertain significance
rs752882056	5:52,396,271	A/C	—	likely benign
rs143347340	5:52,396,278	A/G	—	uncertain significance
rs148367968	5:52,396,280	G/A	—	likely benign
rs141587855	5:52,396,282	C/T	—	uncertain significance
rs1468263783	5:52,396,292	A/G	—	likely benign
rs1740877830	5:52,396,304	T/C	—	likely benign
rs150503623	5:52,396,309	C/G	—	uncertain significance
rs1579931991	5:52,396,314	T/C	—	uncertain significance
rs2478595255	5:52,396,316	G/A	—	likely benign
rs914249018	5:52,396,323	G/A	—	conflicting classifications of pathogenicity
rs1282606362	5:52,396,325	C/T	—	likely benign
rs199581021	5:52,396,327	C/T	—	uncertain significance
rs372386541	5:52,396,331	A/C	—	uncertain significance
rs2478595364	5:52,396,340	G/C	—	uncertain significance
rs2478595383	5:52,396,346	T/C	—	likely benign
rs2478595401	5:52,396,349	T/C	—	likely benign
rs2478595411	5:52,396,352	C/T	—	likely benign
rs2478595418	5:52,396,353	A/C	—	uncertain significance
rs1166507902	5:52,396,371	C/T	—	likely benign
rs1389111750	5:52,396,374	G/A	—	likely benign
rs1172158401	5:52,396,377	G/A	—	likely benign
rs2112082239	5:52,396,379	A/G	—	likely benign
rs1457005041	5:52,396,383	A/G	—	likely benign
rs2478598071	5:52,397,169	A/G	—	likely benign
rs2478598075	5:52,397,170	G/A	—	likely benign
rs1740901154	5:52,397,172	G/C	—	likely benign
rs2478598097	5:52,397,176	A/C	—	likely benign
rs1271155840	5:52,397,178	G/A	—	likely benign
rs1320544589	5:52,397,184	C/G	—	uncertain significance
rs2478598142	5:52,397,185	A/G	—	uncertain significance
rs1389817466	5:52,397,188	C/T	—	pathogenic
rs1433384442	5:52,397,189	C/G	—	uncertain significance
rs2233218	5:52,397,199	A/G	—	conflicting classifications of pathogenicity
rs984312436	5:52,397,206	T/C	—	likely benign
rs1295210297	5:52,397,212	G/A	—	likely benign
rs775202155	5:52,397,221	T/C	—	likely benign
rs2478598423	5:52,397,222	G/A	—	uncertain significance
rs749494824	5:52,397,230	C/T	—	likely benign

Showing 100 of 284 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.