| Entrez Gene ID | 23065 |
|---|---|
| Official Gene Symbol | EMC1 (GeneCards) |
| Full name | ER membrane protein complex subunit 1 |
| Location | 1p36.13 |
| Other ids | Vega : OTTHUMG00000002497 MIM : 616846 HGNC : HGNC:28957 Ensembl : ENSG00000127463 |
| Other names | CAVIPMR, KIAA0090 |
| Summary | This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 2619 | 23065 | EMC1 | 1 | 19565387 | 19565387 | Cockayne syndrome | HiSeq X Ten |