CD96
CD96 molecule
Summary
The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
Known Variants94 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201217931 | 3:111,261,097 | T/C | — | uncertain significance |
| rs762726257 | 3:111,261,141 | A/G | — | uncertain significance |
| rs11929008 | 3:111,261,173 | T/C | — | benign |
| rs1004724022 | 3:111,263,917 | C/G | — | uncertain significance |
| rs557620368 | 3:111,263,962 | C/T | — | likely benign |
| rs149258762 | 3:111,263,991 | G/A | — | uncertain significance |
| rs145133367 | 3:111,264,008 | C/A | — | likely benign |
| rs150450686 | 3:111,264,012 | G/A | — | uncertain significance |
| rs1326230863 | 3:111,264,030 | C/A | — | uncertain significance |
| rs2472373546 | 3:111,264,109 | A/T | — | uncertain significance |
| rs372870533 | 3:111,264,160 | G/A | — | conflicting classifications of pathogenicity |
| rs746693071 | 3:111,264,180 | G/C | — | uncertain significance |
| rs199773662 | 3:111,264,190 | T/C | — | uncertain significance |
| rs1170323393 | 3:111,264,208 | G/A | — | uncertain significance |
| rs377183280 | 3:111,264,256 | A/G | — | likely benign |
| rs1410223124 | 3:111,286,373 | C/G | — | uncertain significance |
| rs2276872 | 3:111,286,375 | G/C | — | benign |
| rs149798144 | 3:111,286,400 | C/T | — | likely benign |
| rs147832650 | 3:111,286,403 | T/C | — | uncertain significance |
| rs371659001 | 3:111,286,435 | C/T | — | uncertain significance |
| rs532537422 | 3:111,286,451 | G/C | — | uncertain significance |
| rs2472447771 | 3:111,286,456 | T/C | — | uncertain significance |
| rs759813586 | 3:111,286,485 | A/G | — | likely benign |
| rs774695561 | 3:111,296,389 | G/A | — | uncertain significance |
| rs267599539 | 3:111,297,905 | C/G | — | uncertain significance |
| rs61733706 | 3:111,297,908 | A/C | — | benign |
| rs2472494391 | 3:111,297,909 | A/T | — | uncertain significance |
| rs149101142 | 3:111,297,916 | C/T | — | likely benign |
| rs200541974 | 3:111,297,944 | A/G | — | uncertain significance |
| rs201505246 | 3:111,298,000 | G/A | — | uncertain significance |
| rs143049331 | 3:111,298,010 | G/A | — | likely benign |
| rs2107584068 | 3:111,298,019 | C/T | — | uncertain significance |
| rs751482008 | 3:111,298,036 | G/A | — | uncertain significance |
| rs879595027 | 3:111,298,071 | C/T | — | likely benign |
| rs1005724903 | 3:111,298,073 | A/G | — | uncertain significance |
| rs1017144472 | 3:111,298,075 | G/T | — | uncertain significance |
| rs753893181 | 3:111,298,077 | T/G | — | likely benign |
| rs1462219495 | 3:111,304,184 | C/T | — | uncertain significance |
| rs928624212 | 3:111,304,187 | G/T | — | uncertain significance |
| rs119477056 | 3:111,304,209 | C/T | missense variant | pathogenic |
| rs1936662124 | 3:111,304,212 | A/G | — | uncertain significance |
| rs144245769 | 3:111,304,239 | A/C | — | likely benign |
| rs141120514 | 3:111,316,970 | A/G | — | likely benign |
| rs17851826 | 3:111,316,975 | T/C | — | likely benign |
| rs1937342582 | 3:111,317,007 | C/G | — | uncertain significance |
| rs772185277 | 3:111,317,057 | G/A | — | uncertain significance |
| rs772711357 | 3:111,318,354 | G/A | — | — |
| rs145863419 | 3:111,319,640 | A/G | — | benign |
| rs200729689 | 3:111,319,710 | C/T | — | uncertain significance |
| rs776048679 | 3:111,319,767 | T/C | — | uncertain significance |
| rs1283203445 | 3:111,325,547 | G/T | — | uncertain significance |
| rs1576381589 | 3:111,325,560 | C/G | — | likely benign |
| rs147445900 | 3:111,325,585 | A/G | — | uncertain significance |
| rs201962401 | 3:111,325,597 | C/T | — | uncertain significance |
| rs980174274 | 3:111,325,610 | C/T | — | uncertain significance |
| rs138396447 | 3:111,325,625 | G/A | — | uncertain significance |
| rs193254047 | 3:111,325,677 | A/T | — | likely benign |
| rs748894159 | 3:111,340,323 | A/T | — | — |
| rs1419914543 | 3:111,342,589 | T/C | — | uncertain significance |
| rs77738677 | 3:111,342,600 | G/A | — | benign |
| rs200767318 | 3:111,342,636 | G/T | — | uncertain significance |
| rs1162310451 | 3:111,342,656 | C/T | — | likely benign |
| rs1002521009 | 3:111,342,659 | C/G | — | likely benign |
| rs148659928 | 3:111,342,667 | A/T | — | conflicting classifications of pathogenicity |
| rs1021804713 | 3:111,342,670 | G/A | — | uncertain significance |
| rs76343124 | 3:111,343,181 | C/A | — | benign |
| rs778704628 | 3:111,343,188 | T/G | — | uncertain significance |
| rs201691670 | 3:111,343,203 | C/T | — | uncertain significance |
| rs758263219 | 3:111,356,029 | T/A | — | uncertain significance |
| rs1533270 | 3:111,356,083 | G/C | — | benign |
| rs34636484 | 3:111,356,092 | G/A | — | benign |
| rs374379667 | 3:111,356,927 | C/T | — | likely benign |
| rs1939421281 | 3:111,356,928 | A/G | — | uncertain significance |
| rs377429008 | 3:111,356,959 | C/T | — | uncertain significance |
| rs766329053 | 3:111,356,975 | T/C | — | likely benign |
| rs140955483 | 3:111,356,989 | C/T | — | conflicting classifications of pathogenicity |
| rs191008961 | 3:111,356,990 | G/A | — | likely benign |
| rs2472752229 | 3:111,357,011 | C/A | — | likely benign |
| rs2472752385 | 3:111,357,032 | A/G | — | likely benign |
| rs1939889614 | 3:111,366,397 | G/T | — | likely benign |
| rs759410727 | 3:111,366,437 | G/A | — | uncertain significance |
| rs750711303 | 3:111,366,461 | A/G | — | uncertain significance |
| rs111262991 | 3:111,366,496 | T/C | — | likely benign |
| rs2107787978 | 3:111,366,524 | T/C | — | likely benign |
| rs374984505 | 3:111,368,538 | T/A | — | uncertain significance |
| rs1939992902 | 3:111,368,561 | C/T | — | uncertain significance |
| rs765701422 | 3:111,368,588 | A/G | — | uncertain significance |
| rs148525569 | 3:111,368,614 | C/T | — | benign |
| rs979289215 | 3:111,368,642 | G/C | — | uncertain significance |
| rs201367770 | 3:111,368,658 | G/A | — | likely benign |
| rs886057770 | 3:111,368,825 | G/T | — | uncertain significance |
| rs886057776 | 3:111,369,497 | A/G | — | uncertain significance |
| rs566078679 | 3:111,369,522 | G/C | — | likely benign |
| rs368097665 | 3:111,370,017 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.