CD247

CD247 molecule

Summary

The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants171 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1651272129	1:167,400,918	T/G	—	uncertain significance
rs201937405	1:167,400,922	C/T	—	uncertain significance
rs752198795	1:167,400,923	G/A	—	uncertain significance
rs376046446	1:167,400,925	G/C	—	uncertain significance
rs190037664	1:167,400,927	G/A	—	benign
rs561262982	1:167,400,950	C/T	—	uncertain significance
rs181656780	1:167,400,951	G/A	—	likely benign
rs769754355	1:167,400,966	G/A	—	likely benign
rs773084349	1:167,400,969	G/A	—	likely benign
rs767214938	1:167,400,988	C/T	—	likely benign
rs200103990	1:167,400,989	G/T	—	uncertain significance
rs2524477521	1:167,400,995	G/C	—	likely benign
rs116757108	1:167,401,001	C/T	—	benign
rs189198029	1:167,401,111	A/T	—	likely benign
rs567107852	1:167,401,124	C/T	—	likely benign
rs16859030	1:167,401,254	T/C	—	benign
rs6668182	1:167,401,983	A/G	—	benign
rs769910123	1:167,402,242	G/A	—	likely benign
rs777799139	1:167,402,245	C/T	—	likely benign
rs762353729	1:167,402,246	G/A	—	likely benign
rs957929190	1:167,402,248	C/T	—	likely benign
rs201171777	1:167,402,249	G/A	—	likely benign
rs759213998	1:167,402,263	G/A	—	uncertain significance
rs775332123	1:167,402,273	A/G	—	likely benign
rs1292337136	1:167,402,275	C/T	—	uncertain significance
rs184894260	1:167,402,276	G/A	—	likely benign
rs148298128	1:167,402,279	C/G	—	likely benign
rs1186462710	1:167,402,289	C/T	—	uncertain significance
rs147527561	1:167,402,292	C/T	—	uncertain significance
rs751981677	1:167,402,293	G/A	—	uncertain significance
rs201594815	1:167,402,295	C/T	—	uncertain significance
rs781510519	1:167,402,296	G/A	—	uncertain significance
rs369387062	1:167,402,306	T/C	—	likely benign
rs1571504909	1:167,402,315	A/C	—	uncertain significance
rs952963	1:167,403,212	G/A	—	benign
rs753046264	1:167,403,260	G/A	—	uncertain significance
rs756340039	1:167,403,264	T/C	—	uncertain significance
rs1232647002	1:167,403,269	C/A	—	likely benign
rs1651406974	1:167,403,280	T/A	—	uncertain significance
rs372665461	1:167,403,285	G/C	—	uncertain significance
rs568106106	1:167,403,290	C/T	—	likely benign
rs745871212	1:167,403,291	G/A	—	uncertain significance
rs923341521	1:167,403,294	A/G	—	uncertain significance
rs2101986573	1:167,403,300	T/C	—	uncertain significance
rs2524487567	1:167,403,302	T/C	—	likely benign
rs2101986584	1:167,403,305	C/T	—	likely benign
rs2524487661	1:167,403,317	C/A	—	likely benign
rs75532935	1:167,403,318	A/G	—	likely benign
rs1313839129	1:167,403,319	G/T	—	likely benign
rs36056000	1:167,403,320	A/G	—	benign
rs768383234	1:167,403,324	G/T	—	likely benign
rs375668936	1:167,403,327	C/T	—	likely benign
rs150725547	1:167,403,328	G/A	—	likely benign
rs769223722	1:167,403,331	G/C	—	likely benign
rs952962	1:167,403,504	A/G	—	benign
rs953809	1:167,403,625	A/G	—	benign
rs953808	1:167,403,844	G/C	intron variant	—
rs377122263	1:167,404,616	G/A	—	likely benign
rs1236039621	1:167,404,644	G/A	—	likely benign
rs754935006	1:167,404,657	G/T	—	uncertain significance
rs145505909	1:167,404,662	T/C	—	uncertain significance
rs2524494237	1:167,404,663	C/T	—	likely benign
rs370910340	1:167,404,664	C/T	—	uncertain significance
rs55729925	1:167,404,671	G/T	missense variant	uncertain significance
rs373120668	1:167,404,685	C/T	—	benign
rs778391175	1:167,404,686	G/A	—	likely benign
rs769153598	1:167,404,691	G/A	—	likely benign
rs1773539	1:167,404,989	A/G	—	likely benign
rs115697342	1:167,405,064	C/T	intron variant	—
rs548753158	1:167,406,511	G/A	—	—
rs2949670	1:167,406,513	A/G	—	—
rs2480679	1:167,407,517	A/G	—	benign
rs2462553	1:167,407,686	C/T	—	benign
rs34462716	1:167,407,782	C/T	—	benign
rs1571512427	1:167,407,794	G/C	—	likely benign
rs2524503195	1:167,407,796	G/A	—	likely benign
rs56199250	1:167,407,799	A/T	—	benign
rs1259655555	1:167,407,804	T/C	—	uncertain significance
rs541120315	1:167,407,807	C/T	—	uncertain significance
rs1453205554	1:167,407,813	T/C	—	likely benign
rs2524503299	1:167,407,816	C/T	—	likely benign
rs56297636	1:167,407,818	C/T	—	uncertain significance
rs139926301	1:167,407,819	C/A	—	uncertain significance
rs367690333	1:167,407,832	C/T	—	uncertain significance
rs144963570	1:167,407,833	G/A	—	uncertain significance
rs1162990874	1:167,407,838	C/T	—	uncertain significance
rs148513413	1:167,407,839	G/A	—	uncertain significance
rs143180729	1:167,407,844	T/C	—	uncertain significance
rs371709798	1:167,407,854	C/T	—	uncertain significance
rs181746205	1:167,407,856	T/G	—	uncertain significance
rs753572867	1:167,407,857	C/G	—	uncertain significance
rs33937946	1:167,407,858	A/G	—	benign
rs34940956	1:167,407,861	C/T	—	benign
rs779397562	1:167,407,872	G/A	—	pathogenic
rs943679483	1:167,407,880	T/C	—	uncertain significance
rs1651665994	1:167,407,885	C/T	—	likely benign
rs369712780	1:167,407,890	A/G	—	uncertain significance
rs184666213	1:167,407,907	G/A	—	likely benign
rs34359201	1:167,407,915	T/C	—	likely benign
rs79939937	1:167,408,071	G/C	—	likely benign

Showing 100 of 171 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.