| Entrez Gene ID | 55500 |
|---|---|
| Official Gene Symbol | ETNK1 (GeneCards) |
| Full name | ethanolamine kinase 1 |
| Location | 12p12.1 |
| Other ids | Vega : OTTHUMG00000169008 MIM : 609858 HGNC : HGNC:24649 Ensembl : ENSG00000139163 |
| Other names | EKI, EKI1, EKI1, Nbla10396 |
| Summary | This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16158 | 55500 | ETNK1 | 12 | 22884579 | 22884579 | Asymptomatic | HiSeq 2000 |
| 16567 | 55500 | ETNK1 | 12 | 23202610 | 23202610 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16595 | 55500 | ETNK1 | 12 | 23138243 | 23138243 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16605 | 55500 | ETNK1 | 12 | 22945434 | 22945434 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16619 | 55500 | ETNK1 | 12 | 22966378 | 22966378 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16822 | 55500 | ETNK1 | 12 | 23013098 | 23013098 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16896 | 55500 | ETNK1 | 12 | 23032874 | 23032874 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |