Details for Gene SCN1A

GENE NAME SCN1A
CHROMOSOME 2
ENSEMBL ID ENSG00000144285
ENTREZ ID 6323
UNIPROT ACCESSION NUMBER P35498
GO MOLECULAR FUNCTION voltage-gated sodium channel activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5576892; R-HSA-397014; R-HSA-445095; R-HSA-422475; hsa04728; R-HSA-373760; R-HSA-9675108; R-HSA-1266738; R-HSA-5576891
2 combinations linked to SCN1A OLI168; OLI558
2 variants linked to SCN1A SCN1A:c.5054C>T, p.Ala1685Val; SCN1A:c.3899C>T, p.Thr1300Ile
2 diseases linked to SCN1A Juvenile myoclonic epilepsy; Generalized epilepsy with febrile seizures-plus

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