STN1

STN1 subunit of CST complex

Summary

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

Known Variants223 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2493018008	10:105,642,442	T/C	—	uncertain significance
rs1419004521	10:105,642,443	C/T	—	likely benign
rs151262540	10:105,642,448	C/T	—	likely benign
rs140449924	10:105,642,449	G/A	—	uncertain significance
rs753286739	10:105,642,453	T/C	—	uncertain significance
rs758150440	10:105,642,468	T/C	—	uncertain significance
rs1353836308	10:105,642,487	C/T	—	likely benign
rs1462149965	10:105,642,493	C/T	—	likely benign
rs2134354123	10:105,642,494	T/C	—	uncertain significance
rs777977676	10:105,642,498	G/A	—	likely benign
rs2493018187	10:105,642,524	G/A	—	uncertain significance
rs757406867	10:105,642,528	C/T	—	uncertain significance
rs532082599	10:105,642,529	G/A	—	benign
rs781399715	10:105,642,534	G/A	—	likely benign
rs756692794	10:105,642,538	C/T	—	likely benign
rs780655414	10:105,642,539	G/A	—	uncertain significance
rs115811576	10:105,642,542	C/T	—	likely benign
rs761593090	10:105,642,543	G/A	—	uncertain significance
rs537766651	10:105,642,544	G/A	—	likely benign
rs758924832	10:105,642,555	G/A	—	uncertain significance
rs1564910318	10:105,642,558	C/A	—	uncertain significance
rs2134354206	10:105,642,562	G/C	—	likely benign
rs762750326	10:105,642,569	A/G	—	uncertain significance
rs757540440	10:105,642,572	T/G	—	uncertain significance
rs1843079246	10:105,642,573	G/A	—	uncertain significance
rs202001347	10:105,642,579	A/T	—	uncertain significance
rs756219814	10:105,642,584	C/T	—	uncertain significance
rs1285954906	10:105,642,586	G/T	—	likely benign
rs780708492	10:105,642,589	C/T	—	likely benign
rs1843079528	10:105,642,597	T/C	—	uncertain significance
rs1589494910	10:105,642,613	G/A	—	likely benign
rs755524472	10:105,642,614	T/G	—	likely benign
rs2067831	10:105,643,223	G/C	upstream gene variant	—
rs61277100	10:105,643,352	A/G	upstream gene variant	—
rs10786774	10:105,644,323	G/T	—	—
rs34379047	10:105,644,473	A/G	—	—
rs3814219	10:105,647,095	G/C	—	—
rs2134358552	10:105,648,813	T/C	—	likely benign
rs905022389	10:105,648,816	A/G	—	likely benign
rs766620909	10:105,648,822	C/A	—	likely benign
rs755596138	10:105,648,829	C/T	—	uncertain significance
rs374196630	10:105,648,832	T/C	—	uncertain significance
rs541666260	10:105,648,857	T/G	—	uncertain significance
rs745579048	10:105,648,862	C/T	—	uncertain significance
rs753557631	10:105,648,863	G/A	—	uncertain significance
rs1354833394	10:105,648,864	G/A	—	likely benign
rs1195859795	10:105,648,877	T/C	—	uncertain significance
rs1297860081	10:105,648,882	G/T	—	uncertain significance
rs1843122294	10:105,648,896	T/C	—	uncertain significance
rs761615727	10:105,648,908	T/C	—	likely benign
rs200543363	10:105,648,915	A/C	—	likely benign
rs774114135	10:105,648,918	A/T	—	likely benign
rs79250842	10:105,648,922	G/A	—	benign
rs11191847	10:105,650,626	G/T	—	—
rs2493027738	10:105,651,871	A/G	—	likely benign
rs2134361009	10:105,651,882	T/A	—	uncertain significance
rs1019246020	10:105,651,893	A/G	—	uncertain significance
rs1337433407	10:105,651,913	T/C	—	uncertain significance
rs779633657	10:105,651,915	T/A	—	uncertain significance
rs748826736	10:105,651,917	T/C	—	uncertain significance
rs142616199	10:105,651,919	T/C	—	uncertain significance
rs2134361054	10:105,651,930	T/A	—	likely benign
rs201076579	10:105,651,940	T/C	—	conflicting classifications of pathogenicity
rs771313798	10:105,651,947	G/A	—	likely benign
rs146867381	10:105,651,955	G/A	—	conflicting classifications of pathogenicity
rs139258012	10:105,651,970	C/T	—	uncertain significance
rs74157365	10:105,651,971	T/G	—	conflicting classifications of pathogenicity
rs367699574	10:105,651,973	T/C	—	uncertain significance
rs2493027939	10:105,651,977	T/C	—	uncertain significance
rs764639049	10:105,651,979	G/T	—	uncertain significance
rs751941982	10:105,651,980	C/T	—	uncertain significance
rs757577860	10:105,651,983	T/C	—	uncertain significance
rs1335241545	10:105,652,010	C/T	—	uncertain significance
rs754641673	10:105,652,014	T/A	—	likely benign
rs778350802	10:105,652,015	A/G	—	likely benign
rs902959549	10:105,652,017	A/G	—	likely benign
rs368708835	10:105,652,020	G/A	—	likely benign
rs1427544451	10:105,652,021	A/G	—	likely benign
rs997907	10:105,654,469	A/C	regulatory region variant	—
rs35007589	10:105,655,228	C/T	regulatory region variant	—
rs1977230	10:105,656,616	G/A	intron variant	—
rs1570221	10:105,656,874	G/A	intron variant	—
rs200617870	10:105,657,287	A/G	—	likely benign
rs2134364761	10:105,657,288	T/G	—	likely benign
rs201809576	10:105,657,293	A/G	—	likely benign
rs2493034641	10:105,657,297	T/G	—	likely benign
rs1436486135	10:105,657,298	G/A	—	likely benign
rs1176962064	10:105,657,299	C/T	—	likely benign
rs10786775	10:105,657,316	G/C	missense variant	benign
rs1431592741	10:105,657,323	T/C	—	uncertain significance
rs747002144	10:105,657,340	T/C	—	uncertain significance
rs372504367	10:105,657,341	T/C	—	uncertain significance
rs781174874	10:105,657,347	G/C	—	uncertain significance
rs11191853	10:105,657,363	C/G	—	benign
rs749332166	10:105,657,367	A/G	—	uncertain significance
rs768664563	10:105,657,368	T/G	—	uncertain significance
rs141654773	10:105,657,372	C/T	—	likely benign
rs1389736599	10:105,657,374	G/T	—	uncertain significance
rs1279446545	10:105,657,396	C/A	—	likely benign
rs145933230	10:105,657,403	T/C	—	uncertain significance

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.