CD200R1
CD200 receptor 1
Summary
This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9865242 | 3:112,642,568 | C/G | — | benign |
| rs77561169 | 3:112,643,193 | T/C | intron variant | — |
| rs760996843 | 3:112,644,023 | A/G | — | uncertain significance |
| rs891783770 | 3:112,647,666 | G/A | — | uncertain significance |
| rs867172045 | 3:112,647,723 | C/T | — | uncertain significance |
| rs199961845 | 3:112,647,738 | G/A | — | uncertain significance |
| rs2472265562 | 3:112,647,750 | G/T | — | uncertain significance |
| rs2472265683 | 3:112,647,809 | T/C | — | uncertain significance |
| rs750282836 | 3:112,647,810 | C/T | — | uncertain significance |
| rs9868053 | 3:112,647,988 | C/A | intron variant | — |
| rs780105126 | 3:112,648,072 | C/T | — | uncertain significance |
| rs144544564 | 3:112,648,129 | C/T | — | likely benign |
| rs201554281 | 3:112,648,157 | G/A | — | uncertain significance |
| rs2472266481 | 3:112,648,175 | T/G | — | uncertain significance |
| rs1260557017 | 3:112,648,334 | T/C | — | uncertain significance |
| rs146696278 | 3:112,649,970 | G/A | — | uncertain significance |
| rs763443097 | 3:112,649,983 | T/C | — | uncertain significance |
| rs7622814 | 3:112,650,431 | T/G | intron variant | — |
| rs114489260 | 3:112,658,741 | G/A | intron variant | — |
| rs4682447 | 3:112,662,937 | C/T | intron variant | — |
| rs372085655 | 3:112,666,762 | C/T | — | uncertain significance |
| rs768802852 | 3:112,666,768 | G/A | — | uncertain significance |
| rs72952147 | 3:112,671,660 | A/T | — | — |
| rs1488193 | 3:112,681,585 | A/G | intron variant | — |
| rs4682449 | 3:112,681,781 | G/A | intron variant | — |
| rs773522185 | 3:112,693,653 | T/C | — | likely benign |
| rs72952157 | 3:112,694,405 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.