CD48
CD48 molecule
Summary
This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150535390 | 1:160,648,875 | C/T | — | likely benign |
| rs1056901858 | 1:160,648,888 | C/G | — | uncertain significance |
| rs4656926 | 1:160,650,913 | A/T | — | — |
| rs190382630 | 1:160,650,919 | C/A | — | benign |
| rs1222531794 | 1:160,651,037 | T/C | — | uncertain significance |
| rs761666727 | 1:160,651,052 | C/T | — | uncertain significance |
| rs182828440 | 1:160,651,069 | C/A | — | uncertain significance |
| rs751027025 | 1:160,651,178 | T/C | — | uncertain significance |
| rs377101847 | 1:160,654,685 | T/C | — | uncertain significance |
| rs139401342 | 1:160,654,688 | A/T | — | uncertain significance |
| rs768100503 | 1:160,654,719 | T/A | — | uncertain significance |
| rs1219016470 | 1:160,654,735 | C/T | — | uncertain significance |
| rs35979150 | 1:160,654,792 | C/T | — | benign |
| rs1233318114 | 1:160,654,816 | T/A | — | uncertain significance |
| rs201970913 | 1:160,654,826 | G/T | — | uncertain significance |
| rs143226582 | 1:160,654,857 | A/G | — | likely benign |
| rs969028739 | 1:160,654,881 | T/C | — | uncertain significance |
| rs1392341153 | 1:160,654,883 | T/C | — | uncertain significance |
| rs1661952736 | 1:160,654,931 | T/A | — | uncertain significance |
| rs199913454 | 1:160,654,941 | C/T | — | uncertain significance |
| rs35918317 | 1:160,654,974 | A/G | — | benign |
| rs11589131 | 1:160,657,137 | A/G | downstream gene variant | — |
| rs57724190 | 1:160,670,897 | G/T | downstream gene variant | — |
| rs146233147 | 1:160,674,893 | A/G | intron variant | — |
| rs11584616 | 1:160,676,294 | C/T | intron variant | — |
| rs183150077 | 1:160,678,991 | G/A | regulatory region variant | — |
| rs184461353 | 1:160,680,184 | G/A | intron variant | — |
| rs755336941 | 1:160,681,492 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.