Entrez Gene ID | 9919 |
---|---|
Official Gene Symbol | SEC16A (GeneCards) |
Full name | SEC16 homolog A, endoplasmic reticulum export factor |
Location | 9q34.3 |
Other ids | Vega : OTTHUMG00000020932 MIM : 612854 HGNC : HGNC:29006 Ensembl : ENSG00000148396 |
Other names | p250, SEC16L, KIAA0310 |
Summary | This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29638 | 9919 | SEC16A | 9 | 139371117 | 139371117 | Autism Spectrum Disorders | MiSeq |