SMIM1
small integral membrane protein 1 (Vel blood group)
Summary
This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1175550 | 1:3,691,528 | A/G | regulatory region variant | — |
| rs779762748 | 1:3,691,994 | C/T | — | likely benign |
| rs779131864 | 1:3,692,037 | C/T | — | likely benign |
| rs757740731 | 1:3,692,359 | G/T | — | uncertain significance |
| rs774613915 | 1:3,692,373 | T/G | — | uncertain significance |
| rs1157172848 | 1:3,692,382 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.