COG2

component of oligomeric golgi complex 2

Summary

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Known Variants184 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs537982202	1:230,778,388	G/A	—	likely benign
rs369420107	1:230,778,394	G/A	—	likely benign
rs2102736333	1:230,778,400	C/A	—	likely pathogenic
rs4846864	1:230,778,491	C/G	—	benign
rs186958793	1:230,788,266	G/A	—	—
rs1359866	1:230,795,177	C/T	—	benign
rs376755531	1:230,795,191	C/T	—	likely benign
rs149710367	1:230,795,200	T/C	—	likely benign
rs1349190357	1:230,795,218	C/T	—	uncertain significance
rs371426548	1:230,795,222	G/A	—	uncertain significance
rs2102749319	1:230,795,246	A/G	—	uncertain significance
rs758358715	1:230,795,252	C/T	—	uncertain significance
rs766265749	1:230,795,253	G/A	—	uncertain significance
rs781119687	1:230,795,269	A/G	—	likely benign
rs142733439	1:230,795,282	C/T	—	likely benign
rs2102749359	1:230,795,288	C/T	—	uncertain significance
rs774929077	1:230,795,311	A/G	—	likely benign
rs79749108	1:230,795,320	C/T	—	benign
rs761579955	1:230,795,321	G/A	—	uncertain significance
rs1662138471	1:230,795,326	C/T	—	likely benign
rs201791868	1:230,795,355	A/G	—	conflicting classifications of pathogenicity
rs2225146	1:230,795,641	A/G	—	benign
rs78361742	1:230,796,240	C/T	—	benign
rs3736983	1:230,796,326	A/G	—	benign
rs3736982	1:230,796,375	C/A	—	benign
rs16852160	1:230,796,533	T/G	—	benign
rs371730085	1:230,796,580	C/T	—	likely benign
rs2296802	1:230,798,808	G/A	—	likely benign
rs368422424	1:230,798,877	T/G	—	likely benign
rs1345247190	1:230,798,878	C/T	—	likely benign
rs185069774	1:230,798,898	G/A	—	benign
rs141422644	1:230,798,959	A/G	—	uncertain significance
rs202180616	1:230,798,971	T/C	—	likely benign
rs369923399	1:230,798,975	C/T	—	likely benign
rs139595158	1:230,800,250	A/G	—	conflicting classifications of pathogenicity
rs182580653	1:230,800,253	A/G	—	likely benign
rs748137002	1:230,800,260	C/T	—	uncertain significance
rs199727575	1:230,800,261	G/A	—	uncertain significance
rs1228384430	1:230,800,283	A/G	—	likely benign
rs116508706	1:230,800,321	T/A	—	uncertain significance
rs200673717	1:230,800,327	C/T	—	uncertain significance
rs2527621254	1:230,800,330	G/A	—	uncertain significance
rs200082688	1:230,800,341	T/A	—	likely benign
rs754649492	1:230,800,352	A/G	—	likely benign
rs746323463	1:230,804,424	C/G	—	uncertain significance
rs2102757233	1:230,804,425	C/T	—	likely benign
rs377285547	1:230,804,440	A/C	—	uncertain significance
rs369552460	1:230,804,502	G/C	—	uncertain significance
rs77326385	1:230,804,503	C/T	—	benign
rs2281951	1:230,804,773	T/C	—	benign
rs41305725	1:230,804,822	C/A	—	benign
rs376181628	1:230,805,102	C/T	—	uncertain significance
rs2527629901	1:230,805,108	G/A	—	uncertain significance
rs1420571751	1:230,805,122	C/T	—	likely benign
rs150261948	1:230,805,134	G/A	—	likely benign
rs776516795	1:230,805,161	C/A	—	likely benign
rs762848634	1:230,805,177	G/A	—	uncertain significance
rs771542526	1:230,805,202	G/T	—	uncertain significance
rs34010781	1:230,805,215	G/A	—	likely benign
rs565186449	1:230,805,229	G/A	—	uncertain significance
rs151309110	1:230,805,279	G/A	—	uncertain significance
rs368113537	1:230,805,290	A/G	—	likely benign
rs74142997	1:230,807,296	A/G	—	uncertain significance
rs2527634411	1:230,807,330	G/A	—	likely benign
rs145037094	1:230,807,333	T/C	—	likely benign
rs1413978375	1:230,807,347	G/A	—	uncertain significance
rs199855667	1:230,807,359	G/A	—	uncertain significance
rs753476484	1:230,807,401	C/G	—	likely benign
rs114389872	1:230,810,545	A/C	—	benign
rs1662548132	1:230,810,724	T/C	—	likely benign
rs888544323	1:230,810,725	A/T	—	likely benign
rs6681346	1:230,810,756	T/A	—	benign
rs1662550597	1:230,810,780	G/A	—	uncertain significance
rs1474948136	1:230,810,831	C/G	—	likely benign
rs546846941	1:230,810,833	C/T	—	uncertain significance
rs144025811	1:230,810,834	G/A	—	likely benign
rs1662552924	1:230,810,846	T/C	—	likely benign
rs17848118	1:230,810,856	G/A	—	uncertain significance
rs113173809	1:230,810,858	T/C	—	likely benign
rs767969104	1:230,810,859	G/C	—	uncertain significance
rs375207649	1:230,810,880	C/T	—	likely benign
rs200709537	1:230,810,881	G/A	—	likely benign
rs56223718	1:230,810,884	C/T	—	likely benign
rs10495297	1:230,813,090	G/T	—	—
rs76259161	1:230,814,431	A/G	—	benign
rs11558606	1:230,814,668	G/A	—	benign
rs370562001	1:230,814,672	G/A	—	uncertain significance
rs200705175	1:230,814,698	C/T	—	uncertain significance
rs1451969018	1:230,814,699	G/A	—	uncertain significance
rs1387051453	1:230,814,721	T/C	—	likely benign
rs780488482	1:230,814,739	C/T	—	likely benign
rs773980476	1:230,814,765	A/G	—	uncertain significance
rs370937568	1:230,814,775	C/T	—	likely benign
rs765350060	1:230,814,817	G/A	—	likely benign
rs144305581	1:230,817,656	G/A	regulatory region variant	—
rs2102769873	1:230,819,301	C/A	—	likely benign
rs756696138	1:230,819,335	G/A	—	likely benign
rs372067889	1:230,819,342	T/C	—	likely benign
rs2296796	1:230,820,578	G/A	—	benign
rs2296797	1:230,820,605	G/T	—	benign

Showing 100 of 184 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.