| Entrez Gene ID | 6335 |
|---|---|
| Official Gene Symbol | SCN9A (GeneCards) |
| Full name | sodium voltage-gated channel alpha subunit 9 |
| Location | 2q24.3 |
| Other ids | Vega : OTTHUMG00000154044 MIM : 603415 HGNC : HGNC:10597 Ensembl : ENSG00000169432 |
| Other names | PN1, ETHA, NENA, SFNP, FEB3B, NE-NA, GEFSP7, HSAN2D, Nav1.7 |
| Summary | This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1082 | 6335 | SCN9A | 2 | 167056342 | 167056342 | Human Skin Fibroblasts | HiSeq 2500 |
| 24795 | 6335 | SCN9A | 2 | 167166227 | 167166227 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |