Details for Gene SCN1B

GENE NAME SCN1B
CHROMOSOME 19
ENSEMBL ID ENSG00000105711
ENTREZ ID 6324
UNIPROT ACCESSION NUMBER Q07699
GO MOLECULAR FUNCTION sodium channel regulator activity; sodium channel inhibitor activity; voltage-gated ion channel activity; sodium channel activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1266738; R-HSA-5576891; R-HSA-397014; R-HSA-445095; R-HSA-373760; R-HSA-9675108; R-HSA-422475; R-HSA-5576892; hsa04261
1 combination linked to SCN1B OLI829
1 variant linked to SCN1B SCN1B:c.492T>C, p.Tyr164Tyr
1 disease linked to SCN1B Benign familial infantile epilepsy

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