| Entrez Gene ID | 157570 |
|---|---|
| Official Gene Symbol | ESCO2 (GeneCards) |
| Full name | establishment of sister chromatid cohesion N-acetyltransferase 2 |
| Location | 8p21.1 |
| Other ids | Vega : OTTHUMG00000163901 MIM : 609353 HGNC : HGNC:27230 Ensembl : ENSG00000171320 |
| Other names | RBS, EFO2, 2410004I17Rik |
| Summary | This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 12609 | 157570 | ESCO2 | 8 | 27633431 | 27633431 | Cockayne syndrome | HiSeq X Ten |