| Entrez Gene ID | 55907 |
|---|---|
| Official Gene Symbol | CMAS (GeneCards) |
| Full name | cytidine monophosphate N-acetylneuraminic acid synthetase |
| Location | 12p12.1 |
| Other ids | Vega : OTTHUMG00000169097 MIM : 603316 HGNC : HGNC:18290 Ensembl : ENSG00000111726 |
| Other names | CSS |
| Summary | This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16116 | 55907 | CMAS | 12 | 22340216 | 22340216 | Asymptomatic | HiSeq X Ten |
| 16338 | 55907 | CMAS | 12 | 22333314 | 22333314 | Asymptomatic | HiSeq X Ten |
| 16732 | 55907 | CMAS | 12 | 22324153 | 22324153 | Asymptomatic | HiSeq X Ten |
| 16837 | 55907 | CMAS | 12 | 22198764 | 22198764 | Asymptomatic | HiSeq X Ten |