| Entrez Gene ID | 1272 |
|---|---|
| Official Gene Symbol | CNTN1 (GeneCards) |
| Full name | contactin 1 |
| Location | 12q12 |
| Other ids | Vega : OTTHUMG00000169362 MIM : 600016 HGNC : HGNC:2171 Ensembl : ENSG00000018236 |
| Other names | F3, GP135, MYPCN |
| Summary | The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16178 | 1272 | CNTN1 | 12 | 41087986 | 41087986 | Asymptomatic | HiSeq 2000 |
| 16254 | 1272 | CNTN1 | 12 | 41411833 | 41411833 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16314 | 1272 | CNTN1 | 12 | 41344268 | 41344268 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16319 | 1272 | CNTN1 | 12 | 41347298 | 41347298 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 16766 | 1272 | CNTN1 | 12 | 41222536 | 41222536 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 29692 | 1272 | CNTN1 | 12 | 41410611 | 41410611 | Autism Spectrum Disorders | HiSeq 2000 HiSeq X Ten MiSeq |