| Entrez Gene ID | 54714 |
|---|---|
| Official Gene Symbol | CNGB3 (GeneCards) |
| Full name | cyclic nucleotide gated channel beta 3 |
| Location | 8q21.3 |
| Other ids | Vega : OTTHUMG00000163738 MIM : 605080 HGNC : HGNC:2153 Ensembl : ENSG00000170289 |
| Other names | ACHM1 |
| Summary | This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 12237 | 54714 | CNGB3 | 8 | 87795879 | 87795879 | Asymptomatic | HiSeq X Ten |
| 12268 | 54714 | CNGB3 | 8 | 87677092 | 87677092 | Asymptomatic | HiSeq X Ten |
| 12492 | 54714 | CNGB3 | 8 | 87629739 | 87629739 | Asymptomatic | HiSeq X Ten |
| 29505 | 54714 | CNGB3 | 8 | 87588291 | 87588291 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |