SELP
selectin P
Summary
This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3917855 | 1:169,558,873 | G/C | — | — |
| rs3917854 | 1:169,559,035 | C/T | upstream gene variant | — |
| rs3917853 | 1:169,559,326 | G/A | upstream gene variant | — |
| rs191909936 | 1:169,559,396 | G/A | — | uncertain significance |
| rs748832593 | 1:169,559,414 | G/A | — | uncertain significance |
| rs559141831 | 1:169,560,033 | A/G | — | — |
| rs3917843 | 1:169,560,257 | C/T | upstream gene variant | — |
| rs775467660 | 1:169,562,885 | C/A | — | uncertain significance |
| rs1293333979 | 1:169,562,898 | A/C | — | likely benign |
| rs6128 | 1:169,562,904 | C/T | synonymous variant | benign |
| rs3917831 | 1:169,562,949 | A/G | — | benign |
| rs566756291 | 1:169,563,945 | C/A | — | uncertain significance |
| rs6136 | 1:169,563,951 | T/G | missense variant | benign |
| rs766724007 | 1:169,564,094 | T/G | — | uncertain significance |
| rs2526550020 | 1:169,564,098 | G/C | — | uncertain significance |
| rs574264599 | 1:169,565,193 | G/T | — | uncertain significance |
| rs746635814 | 1:169,565,225 | C/T | — | uncertain significance |
| rs967684249 | 1:169,565,228 | A/G | — | uncertain significance |
| rs780693388 | 1:169,565,244 | C/T | — | uncertain significance |
| rs766983020 | 1:169,565,245 | G/A | — | likely benign |
| rs3917815 | 1:169,565,246 | T/C | — | benign |
| rs146981863 | 1:169,565,300 | C/T | — | uncertain significance |
| rs202164697 | 1:169,565,342 | T/C | — | likely benign |
| rs6133 | 1:169,565,346 | C/G | missense variant | benign |
| rs1661653936 | 1:169,566,241 | G/T | — | uncertain significance |
| rs2228672 | 1:169,566,265 | A/C | — | benign |
| rs6132 | 1:169,566,308 | G/A | — | benign |
| rs6127 | 1:169,566,313 | C/T | missense variant | benign |
| rs6135 | 1:169,566,326 | G/A | — | benign |
| rs370194750 | 1:169,566,355 | G/A | — | uncertain significance |
| rs776719979 | 1:169,566,374 | G/C | — | uncertain significance |
| rs2526566259 | 1:169,566,385 | C/T | — | uncertain significance |
| rs3917779 | 1:169,570,848 | G/A | intron variant | — |
| rs781178246 | 1:169,572,341 | C/T | — | uncertain significance |
| rs751219321 | 1:169,572,399 | C/T | — | likely benign |
| rs139642713 | 1:169,572,405 | T/A | — | uncertain significance |
| rs3917768 | 1:169,572,947 | T/C | — | — |
| rs1997664 | 1:169,574,166 | A/T | regulatory region variant | — |
| rs3917761 | 1:169,574,729 | G/A | — | — |
| rs2223303 | 1:169,574,887 | C/T | intron variant | — |
| rs6130 | 1:169,576,207 | G/A | — | uncertain significance |
| rs1454514369 | 1:169,576,223 | T/G | — | uncertain significance |
| rs545947751 | 1:169,576,334 | G/A | — | uncertain significance |
| rs201464784 | 1:169,576,340 | C/A | — | uncertain significance |
| rs115596475 | 1:169,576,375 | A/G | — | benign |
| rs3917751 | 1:169,576,568 | G/T | — | — |
| rs761957913 | 1:169,578,790 | G/T | — | likely benign |
| rs200647043 | 1:169,578,799 | C/T | — | uncertain significance |
| rs147152033 | 1:169,578,810 | A/T | — | uncertain significance |
| rs142224750 | 1:169,578,831 | C/T | — | likely benign |
| rs377417756 | 1:169,578,852 | T/C | — | uncertain significance |
| rs1557960534 | 1:169,578,880 | A/G | — | uncertain significance |
| rs3917739 | 1:169,579,378 | C/A | — | — |
| rs2235302 | 1:169,580,290 | C/T | intron variant | — |
| rs3917733 | 1:169,580,510 | C/T | intron variant | — |
| rs1571655455 | 1:169,580,735 | C/T | — | uncertain significance |
| rs775057587 | 1:169,580,754 | A/G | — | uncertain significance |
| rs138382931 | 1:169,580,777 | C/T | — | likely benign |
| rs367857388 | 1:169,580,867 | C/T | — | uncertain significance |
| rs6131 | 1:169,580,885 | C/T | missense variant | benign |
| rs141287418 | 1:169,580,892 | C/T | — | uncertain significance |
| rs1557963419 | 1:169,581,461 | A/G | — | uncertain significance |
| rs768296218 | 1:169,581,482 | A/C | — | uncertain significance |
| rs1662584944 | 1:169,581,592 | C/A | — | uncertain significance |
| rs3917724 | 1:169,581,595 | G/A | — | benign |
| rs730880284 | 1:169,582,166 | C/T | — | pathogenic |
| rs199912684 | 1:169,582,245 | C/T | — | uncertain significance |
| rs768767040 | 1:169,582,268 | T/C | — | uncertain significance |
| rs6125 | 1:169,582,317 | C/T | missense variant | — |
| rs906658177 | 1:169,582,832 | C/T | — | uncertain significance |
| rs1466050047 | 1:169,586,268 | G/A | — | uncertain significance |
| rs930394722 | 1:169,586,286 | T/C | — | uncertain significance |
| rs757246310 | 1:169,586,337 | T/C | — | uncertain significance |
| rs147922476 | 1:169,586,363 | G/A | — | benign |
| rs202013694 | 1:169,586,515 | A/G | — | uncertain significance |
| rs753097216 | 1:169,586,560 | G/A | — | uncertain significance |
| rs369367564 | 1:169,588,403 | T/C | — | uncertain significance |
| rs3917687 | 1:169,591,093 | A/G | intron variant | — |
| rs3917677 | 1:169,592,208 | A/C | intron variant | — |
| rs3917862 | 1:169,593,113 | A/G | intron variant | — |
| rs3917657 | 1:169,598,742 | G/A | intron variant | — |
| rs3917655 | 1:169,598,995 | G/A | — | — |
| rs732314 | 1:169,599,254 | T/C | intron variant | — |
| rs3753306 | 1:169,600,232 | T/C | upstream gene variant | — |
| rs1800808 | 1:169,601,129 | A/G | upstream gene variant | — |
| rs1800805 | 1:169,601,281 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.