| Entrez Gene ID | 23218 |
|---|---|
| Official Gene Symbol | NBEAL2 (GeneCards) |
| Full name | neurobeachin like 2 |
| Location | 3p21.31 |
| Other ids | Vega : OTTHUMG00000156497 MIM : 614169 HGNC : HGNC:31928 Ensembl : ENSG00000160796 |
| Other names | GPS, BDPLT4 |
| Summary | The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 984 | 23218 | NBEAL2 | 3 | 47047832 | 47047832 | Human Skin Fibroblasts | HiSeq 2500 |
| 985 | 23218 | NBEAL2 | 3 | 47047833 | 47047833 | Human Skin Fibroblasts | HiSeq 2500 |