| Entrez Gene ID | 259230 |
|---|---|
| Official Gene Symbol | SGMS1 (GeneCards) |
| Full name | sphingomyelin synthase 1 |
| Location | 10q11.23 |
| Other ids | Vega : OTTHUMG00000018231 MIM : 611573 HGNC : HGNC:29799 Ensembl : ENSG00000198964 |
| Other names | MOB, MOB1, SMS1, TMEM23, hmob33 |
| Summary | The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 13971 | 259230 | SGMS1 | 10 | 52271173 | 52271173 | Asymptomatic | HiSeq X Ten |
| 14024 | 259230 | SGMS1 | 10 | 52156302 | 52156302 | Asymptomatic | HiSeq X Ten |
| 14026 | 259230 | SGMS1 | 10 | 52108497 | 52108497 | Asymptomatic | HiSeq X Ten |
| 14059 | 259230 | SGMS1 | 10 | 52227407 | 52227407 | Asymptomatic | HiSeq X Ten |
| 14102 | 259230 | SGMS1 | 10 | 52162240 | 52162240 | Asymptomatic | HiSeq X Ten |
| 14209 | 259230 | SGMS1 | 10 | 52193767 | 52193767 | Asymptomatic | HiSeq X Ten |
| 14425 | 259230 | SGMS1 | 10 | 52153199 | 52153199 | Asymptomatic | HiSeq X Ten |
| 14731 | 259230 | SGMS1 | 10 | 52265802 | 52265802 | Cockayne syndrome | HiSeq X Ten |
| 14844 | 259230 | SGMS1 | 10 | 52262467 | 52262467 | Cockayne syndrome | HiSeq X Ten |