ACKR1
atypical chemokine receptor 1 (Duffy blood group)
Summary
The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3027009 | 1:159,173,887 | A/G | downstream gene variant | — |
| rs3027012 | 1:159,174,123 | C/T | regulatory region variant | — |
| rs1336591035 | 1:159,174,676 | G/A | — | likely benign |
| rs2814778 | 1:159,174,683 | T/C | downstream gene variant | pathogenic |
| rs1650408180 | 1:159,175,270 | C/T | — | uncertain significance |
| rs751191108 | 1:159,175,296 | G/A | — | uncertain significance |
| rs12075 | 1:159,175,354 | G/A | missense variant | benign |
| rs202220574 | 1:159,175,375 | C/T | — | uncertain significance |
| rs118062001 | 1:159,175,428 | C/T | — | affects |
| rs2525654126 | 1:159,175,474 | T/G | — | uncertain significance |
| rs112071852 | 1:159,175,493 | C/A | — | uncertain significance |
| rs34599082 | 1:159,175,494 | C/T | missense variant | pathogenic |
| rs376764336 | 1:159,175,510 | C/G | — | uncertain significance |
| rs13962 | 1:159,175,527 | G/A | missense variant | benign |
| rs200089772 | 1:159,175,543 | G/A | — | uncertain significance |
| rs529272627 | 1:159,175,600 | G/A | — | likely benign |
| rs754054567 | 1:159,175,711 | A/G | — | uncertain significance |
| rs191616307 | 1:159,175,832 | G/A | — | likely benign |
| rs146219376 | 1:159,175,884 | G/A | — | uncertain significance |
| rs36007769 | 1:159,175,943 | A/G | — | benign |
| rs762234815 | 1:159,175,958 | G/A | — | uncertain significance |
| rs2525656366 | 1:159,176,064 | C/G | — | uncertain significance |
| rs772152809 | 1:159,176,187 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.