Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Ensembl_gene_ID
|
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
Generalized epilepsy with febrile seizures plus |
| gptkbp:biotype |
protein_coding
|
| gptkbp:encodes |
Sodium channel protein type 1 subunit alpha
|
| gptkbp:Entrez_Gene_ID |
gptkb:SCN1A
|
| gptkbp:gene |
gptkb:SCN1A
|
| gptkbp:hasRefSeqID |
NM_001165963
|
| gptkbp:hasTranscript |
ENST00000303395
ENST00000303396 ENST00000303397 ENST00000303398 ENST00000303399 ENST00000303400 ENST00000303401 ENST00000303402 ENST00000303403 ENST00000303404 |
| gptkbp:HGNC_ID |
HGNC:10585
|
| gptkbp:locatedOnChromosome |
2
2q24.3 |
| gptkbp:OMIM |
182389
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:startPoint |
165206082
165314051 |
| gptkbp:strand |
plus
|
| gptkbp:UniProtID |
P35498
|
| gptkbp:bfsParent |
gptkb:GVC_(gene)
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000162512
|