TSPAN12

tetraspanin 12

Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]

Known Variants202 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147549883	7:120,427,376	A/C	—	benign
rs189221112	7:120,427,403	T/A	—	benign
rs1793428871	7:120,427,406	T/C	—	uncertain significance
rs192303288	7:120,427,507	T/A	—	benign
rs182626886	7:120,427,648	C/T	—	benign
rs763409914	7:120,427,759	G/C	—	uncertain significance
rs886061956	7:120,428,093	G/C	—	uncertain significance
rs545129654	7:120,428,312	T/A	—	benign
rs1019599323	7:120,428,317	C/T	—	uncertain significance
rs1480438432	7:120,428,520	A/G	—	uncertain significance
rs1331859165	7:120,428,542	G/T	—	uncertain significance
rs886061957	7:120,428,543	G/T	—	uncertain significance
rs375824224	7:120,428,606	A/G	—	likely benign
rs41622	7:120,428,607	A/G	—	benign
rs140859970	7:120,428,655	C/T	—	likely benign
rs2485287086	7:120,428,659	A/C	—	uncertain significance
rs764925169	7:120,428,667	G/T	—	uncertain significance
rs751690853	7:120,428,682	G/C	—	uncertain significance
rs1207228302	7:120,428,687	C/T	—	uncertain significance
rs372498612	7:120,428,689	A/G	—	uncertain significance
rs560056499	7:120,428,694	T/C	—	likely benign
rs143060523	7:120,428,696	T/C	—	benign
rs371203447	7:120,428,724	T/C	—	likely benign
rs151200827	7:120,428,731	A/G	—	likely benign
rs191668687	7:120,428,732	G/T	—	uncertain significance
rs137971071	7:120,428,739	T/C	—	conflicting classifications of pathogenicity
rs919875100	7:120,428,748	T/G	—	likely benign
rs149496066	7:120,428,752	A/G	—	uncertain significance
rs1049569979	7:120,428,754	G/T	—	uncertain significance
rs1793457741	7:120,428,757	C/A	—	uncertain significance
rs762717803	7:120,428,763	G/C	—	uncertain significance
rs764062837	7:120,428,764	T/C	—	uncertain significance
rs143868420	7:120,428,782	A/G	—	uncertain significance
rs1793459072	7:120,428,790	G/A	—	likely benign
rs551381188	7:120,428,797	C/T	—	uncertain significance
rs41623	7:120,428,799	A/C	—	likely benign
rs779629957	7:120,428,801	G/C	—	uncertain significance
rs748587940	7:120,428,802	C/A	—	uncertain significance
rs756801973	7:120,428,804	C/T	—	uncertain significance
rs140050977	7:120,428,819	A/G	—	uncertain significance
rs1221195979	7:120,428,829	G/A	—	likely benign
rs200519776	7:120,428,830	A/G	missense variant	pathogenic
rs1584917331	7:120,428,840	T/C	—	uncertain significance
rs2485288207	7:120,428,841	G/T	—	likely benign
rs267607154	7:120,428,855	C/G	missense variant	pathogenic
rs2116274241	7:120,428,864	G/T	—	uncertain significance
rs150675114	7:120,428,869	A/G	—	uncertain significance
rs760786037	7:120,428,875	A/G	—	uncertain significance
rs1020326760	7:120,428,876	T/C	—	uncertain significance
rs766747629	7:120,428,882	T/C	—	uncertain significance
rs754107565	7:120,428,897	G/T	—	uncertain significance
rs1304097318	7:120,428,904	C/A	—	likely benign
rs758787203	7:120,428,924	A/G	—	likely benign
rs1390479024	7:120,428,928	G/A	—	likely benign
rs749945324	7:120,428,934	C/T	—	uncertain significance
rs755620037	7:120,428,950	C/T	—	pathogenic
rs1413741774	7:120,428,966	C/T	—	likely benign
rs1248767677	7:120,428,969	G/A	—	likely benign
rs41626	7:120,437,607	C/A	—	—
rs116481869	7:120,446,592	T/C	—	benign
rs1292879273	7:120,446,595	G/A	—	likely benign
rs752095641	7:120,446,599	T/C	—	uncertain significance
rs2116347776	7:120,446,602	C/A	—	likely pathogenic
rs2116347830	7:120,446,613	A/C	—	uncertain significance
rs779474330	7:120,446,628	T/C	—	uncertain significance
rs2116347927	7:120,446,637	G/T	—	uncertain significance
rs779191106	7:120,446,638	C/T	—	uncertain significance
rs778606719	7:120,446,646	G/A	—	uncertain significance
rs1335735639	7:120,446,649	C/T	—	pathogenic
rs267607151	7:120,446,653	C/G	missense variant	pathogenic
rs1276419444	7:120,446,663	T/G	—	uncertain significance
rs771135954	7:120,446,668	C/A	—	uncertain significance
rs2116348290	7:120,446,672	G/T	—	pathogenic
rs878853243	7:120,446,673	C/A	missense variant	pathogenic
rs759855646	7:120,446,675	G/A	—	likely benign
rs1005284722	7:120,446,690	G/A	—	likely benign
rs2116348480	7:120,446,701	T/A	—	uncertain significance
rs1793880586	7:120,446,705	T/C	—	likely benign
rs1424477385	7:120,446,706	T/A	—	uncertain significance
rs2485339769	7:120,446,713	A/G	—	conflicting classifications of pathogenicity
rs2116348557	7:120,446,722	A/G	—	uncertain significance
rs1584929671	7:120,446,724	T/C	—	uncertain significance
rs746198006	7:120,446,726	T/C	—	likely benign
rs774728139	7:120,446,731	C/T	—	conflicting classifications of pathogenicity
rs2116348660	7:120,446,734	C/T	—	uncertain significance
rs2116348690	7:120,446,739	C/A	—	uncertain significance
rs2485339909	7:120,446,747	C/G	—	pathogenic
rs371866127	7:120,446,749	G/A	—	uncertain significance
rs2485339971	7:120,446,758	A/T	—	likely benign
rs373764217	7:120,446,763	T/C	—	likely benign
rs10243869	7:120,446,925	G/A	—	benign
rs1055359487	7:120,450,504	T/C	—	likely benign
rs768053082	7:120,450,521	C/G	—	uncertain significance
rs886061958	7:120,450,528	A/G	—	uncertain significance
rs1302628666	7:120,450,529	A/G	—	likely benign
rs2116363278	7:120,450,536	C/A	—	uncertain significance
rs759104377	7:120,450,545	G/T	—	conflicting classifications of pathogenicity
rs2116363345	7:120,450,551	C/T	—	pathogenic
rs757607505	7:120,450,553	C/T	—	likely benign
rs374977768	7:120,450,554	C/T	—	uncertain significance

Showing 100 of 202 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.