STAG3

STAG3 cohesin complex component

Summary

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

Known Variants126 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12666107	7:99,778,019	G/C	—	benign
rs140021945	7:99,778,190	C/T	—	uncertain significance
rs11531577	7:99,778,227	G/T	missense variant	benign
rs2484737424	7:99,778,238	C/T	—	uncertain significance
rs750661592	7:99,778,247	C/T	—	uncertain significance
rs1458675899	7:99,778,283	A/G	—	uncertain significance
rs2272343	7:99,778,285	A/C	—	benign
rs149733769	7:99,778,317	T/C	—	benign
rs1370780612	7:99,779,524	C/A	—	benign
rs200232685	7:99,779,768	C/A	—	uncertain significance
rs6465764	7:99,779,886	G/A	—	benign
rs4729579	7:99,780,282	C/G	—	benign
rs2056726	7:99,780,283	G/A	—	benign
rs779780283	7:99,780,374	G/C	—	uncertain significance
rs370462397	7:99,780,383	A/G	—	likely benign
rs10252884	7:99,780,655	T/C	—	benign
rs6960458	7:99,783,714	G/T	—	benign
rs1296715259	7:99,783,821	A/C	—	likely pathogenic
rs767179471	7:99,783,832	G/C	—	uncertain significance
rs2484804902	7:99,783,898	A/G	—	uncertain significance
rs1357626373	7:99,783,910	G/A	—	uncertain significance
rs201755317	7:99,786,539	C/A	—	uncertain significance
rs1165337774	7:99,786,547	A/G	—	uncertain significance
rs2272344	7:99,786,819	C/T	—	benign
rs11764176	7:99,786,964	G/T	—	benign
rs369812552	7:99,787,137	G/A	—	uncertain significance
rs776480376	7:99,787,185	A/C	—	uncertain significance
rs767644022	7:99,787,212	G/A	—	uncertain significance
rs6948729	7:99,787,372	A/G	—	benign
rs73159758	7:99,793,305	G/A	downstream gene variant	—
rs116941680	7:99,793,352	G/A	downstream gene variant	—
rs1800742331	7:99,794,790	C/T	—	uncertain significance
rs766991165	7:99,794,795	A/G	—	uncertain significance
rs1031011371	7:99,794,799	G/A	—	pathogenic
rs757075796	7:99,794,831	A/G	—	uncertain significance
rs145604769	7:99,794,848	G/A	—	likely benign
rs1554406947	7:99,794,903	G/C	—	likely pathogenic
rs62482167	7:99,795,215	C/G	—	benign
rs374389919	7:99,795,392	C/T	—	likely benign
rs774733445	7:99,795,404	C/T	—	pathogenic
rs777893703	7:99,795,464	A/C	—	uncertain significance
rs111629818	7:99,796,057	A/G	—	benign
rs3823642	7:99,796,072	T/C	—	benign
rs1161498711	7:99,796,115	T/G	—	likely pathogenic
rs2484939785	7:99,796,120	G/A	—	uncertain significance
rs1439737411	7:99,796,124	C/T	—	uncertain significance
rs3735241	7:99,796,146	A/C	—	benign
rs751680143	7:99,796,165	C/T	—	likely pathogenic
rs760190813	7:99,796,166	G/A	—	uncertain significance
rs149765159	7:99,796,183	G/A	—	uncertain significance
rs1316831623	7:99,796,479	G/C	—	uncertain significance
rs145719011	7:99,796,530	G/A	—	uncertain significance
rs144753898	7:99,796,583	G/A	—	likely benign
rs376787666	7:99,796,995	G/A	splice region variant	pathogenic
rs2272345	7:99,797,031	C/G	—	benign
rs13230744	7:99,797,792	A/G	—	benign
rs1184312865	7:99,797,869	C/A	—	uncertain significance
rs775217092	7:99,797,892	G/A	—	uncertain significance
rs2484978524	7:99,797,926	C/G	—	uncertain significance
rs200635975	7:99,797,943	C/T	—	likely benign
rs753967260	7:99,798,155	G/A	—	uncertain significance
rs765281407	7:99,798,425	G/C	—	uncertain significance
rs2117315224	7:99,798,473	G/A	—	uncertain significance
rs777219629	7:99,798,481	C/A	—	pathogenic
rs2484991290	7:99,798,508	C/G	—	uncertain significance
rs1400291984	7:99,798,515	C/T	—	uncertain significance
rs141693812	7:99,798,530	C/T	—	uncertain significance
rs2484992253	7:99,798,543	T/C	—	uncertain significance
rs751313304	7:99,798,743	A/T	—	uncertain significance
rs749566755	7:99,798,750	C/T	—	uncertain significance
rs907848936	7:99,798,904	G/A	—	uncertain significance
rs939945898	7:99,798,916	A/G	—	uncertain significance
rs1354556291	7:99,798,962	G/A	—	likely benign
rs201153813	7:99,799,447	T/A	—	likely benign
rs140742906	7:99,799,496	G/A	—	benign
rs147534964	7:99,799,582	C/T	—	likely benign
rs372110074	7:99,799,593	G/A	—	uncertain significance
rs2485017715	7:99,799,599	A/T	—	uncertain significance
rs140231893	7:99,799,621	G/C	—	uncertain significance
rs2117333857	7:99,799,665	G/A	—	pathogenic
rs771846958	7:99,799,810	A/G	—	uncertain significance
rs1801202866	7:99,799,834	C/T	—	uncertain significance
rs1043915	7:99,799,845	T/A	—	benign
rs372921469	7:99,799,946	C/T	—	likely benign
rs768767781	7:99,800,121	C/T	—	uncertain significance
rs1801236426	7:99,800,140	G/A	—	uncertain significance
rs138556948	7:99,800,239	A/T	—	benign
rs200453182	7:99,801,675	A/T	—	uncertain significance
rs200361384	7:99,801,677	A/T	—	uncertain significance
rs776218918	7:99,801,711	A/G	—	uncertain significance
rs764841861	7:99,801,719	C/T	stop gained	pathogenic
rs79986079	7:99,802,044	C/T	—	benign
rs78633062	7:99,802,047	T/C	—	benign
rs140436161	7:99,802,270	G/A	—	likely benign
rs141144236	7:99,802,678	A/G	—	likely benign
rs746271999	7:99,802,729	G/A	—	uncertain significance
rs377424815	7:99,802,752	C/T	—	uncertain significance
rs2246713	7:99,802,812	G/C	—	benign
rs2117399949	7:99,802,875	C/T	—	likely pathogenic
rs979814800	7:99,802,911	C/T	—	uncertain significance

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.