SNX17
sorting nexin 17
Summary
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751219837 | 2:27,593,663 | C/T | — | uncertain significance |
| rs200553935 | 2:27,595,515 | T/C | — | uncertain significance |
| rs201610356 | 2:27,595,532 | C/G | — | uncertain significance |
| rs752167141 | 2:27,596,175 | A/G | — | likely benign |
| rs1217182103 | 2:27,596,764 | G/A | — | uncertain significance |
| rs147116539 | 2:27,596,846 | G/A | — | likely benign |
| rs554243731 | 2:27,597,019 | A/G | — | uncertain significance |
| rs145548664 | 2:27,597,218 | C/T | — | uncertain significance |
| rs752636825 | 2:27,597,219 | G/A | — | uncertain significance |
| rs749634634 | 2:27,597,252 | C/G | — | uncertain significance |
| rs142888525 | 2:27,597,588 | T/C | — | uncertain significance |
| rs4665972 | 2:27,598,097 | T/C | regulatory region variant | — |
| rs981370620 | 2:27,598,392 | C/T | — | uncertain significance |
| rs199872271 | 2:27,598,415 | C/T | — | uncertain significance |
| rs147391609 | 2:27,598,471 | C/T | — | likely benign |
| rs201136377 | 2:27,598,473 | C/T | — | uncertain significance |
| rs745894121 | 2:27,598,547 | C/T | — | uncertain significance |
| rs772592950 | 2:27,598,548 | G/A | — | uncertain significance |
| rs139268412 | 2:27,598,759 | G/A | — | uncertain significance |
| rs779146357 | 2:27,599,036 | G/A | — | uncertain significance |
| rs747636594 | 2:27,599,193 | G/A | — | uncertain significance |
| rs776593677 | 2:27,599,205 | C/T | — | uncertain significance |
| rs552437005 | 2:27,599,220 | A/C | — | likely benign |
| rs755622174 | 2:27,599,234 | G/A | — | uncertain significance |
| rs757189980 | 2:27,599,252 | C/T | — | uncertain significance |
| rs761785779 | 2:27,599,476 | A/C | — | uncertain significance |
| rs779507983 | 2:27,599,569 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.