Hs06993348_cn

• Gene Symbol: SCN8A
• Assay Reference Genome Location: Chr.12:51642448 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 6334
• Gene Name: sodium voltage-gated channel alpha subunit 8
• Gene Aliases: CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4
• Location: Chr.12:51589959-51812865 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCN8A	NM_001177984.2			NP_001171455.1
	NM_014191.3			NP_055006.1
	XM_006719556.3			XP_006719619.1
	XM_011538650.2			XP_011536952.1
	XM_011538651.2			XP_011536953.1
	XM_017019794.1			XP_016875283.1
	XM_017019795.1			XP_016875284.1
	XM_017019796.1			XP_016875285.1
	AB027567.1			BAA78033.1
	AK309213.1
	AY510076.1			AAS89685.1
	AY510083.1			AAS89692.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3629508	Chr.12:51639728 - 51650779 on Build GRCh38	Gain	SCN8A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

sodium ion transport
nervous system development
peripheral nervous system development
neuronal action potential
regulation of ion transmembrane transport
sodium ion transmembrane transport
myelination
regulation of postsynaptic membrane potential
membrane depolarization during action potential

Function(s)

voltage-gated sodium channel activity
protein binding
ATP binding