AP3S1
adaptor related protein complex 3 subunit sigma 1
Summary
This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs26537 | 5:115,177,014 | T/C | regulatory region variant | — |
| rs2532221202 | 5:115,177,751 | T/C | — | uncertain significance |
| rs12517882 | 5:115,198,802 | G/A | intron variant | — |
| rs767001070 | 5:115,205,727 | T/A | — | uncertain significance |
| rs3756555 | 5:115,243,936 | G/A | intron variant | — |
| rs7733604 | 5:115,249,078 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.