SMAP1
small ArfGAP 1
Summary
The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770202290 | 6:71,464,732 | A/G | — | uncertain significance |
| rs537142657 | 6:71,471,988 | T/G | — | — |
| rs2481682718 | 6:71,483,117 | G/A | — | uncertain significance |
| rs1286526220 | 6:71,508,370 | A/G | — | uncertain significance |
| rs2273566 | 6:71,546,702 | C/T | — | benign |
| rs376013565 | 6:71,562,298 | C/T | — | likely benign |
| rs774775763 | 6:71,566,619 | G/T | — | uncertain significance |
| rs1281126933 | 6:71,567,643 | C/G | — | uncertain significance |
| rs118174139 | 6:71,567,649 | T/C | — | uncertain significance |
| rs2481962730 | 6:71,567,693 | T/C | — | uncertain significance |
| rs146581543 | 6:71,567,727 | T/C | — | uncertain significance |
| rs1771510293 | 6:71,567,750 | A/G | — | uncertain significance |
| rs200644554 | 6:71,567,834 | G/C | — | uncertain significance |
| rs2481963891 | 6:71,567,838 | T/C | — | uncertain significance |
| rs374075376 | 6:71,567,889 | T/C | — | uncertain significance |
| rs778607875 | 6:71,569,903 | A/G | — | likely benign |
| rs200085417 | 6:71,569,945 | C/A | — | uncertain significance |
| rs146782076 | 6:71,569,949 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.