Hs05854717_cn

• Gene Symbol: SCN2A
• Assay Reference Genome Location: Chr.2:165221877 on build GRCh38
• Cytoband: 2q24.3

Target Gene Details

• Entrez Gene ID: 6326
• Gene Name: sodium voltage-gated channel alpha subunit 2
• Gene Aliases: BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
• Location: Chr.2:165208056-165392310 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCN2A	XM_017004656.1			XP_016860145.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2082n106	Chr.2:165221625 - 165222143 on Build GRCh38	Deletion	SCN2A

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
intrinsic apoptotic signaling pathway in response to osmotic stress
neuronal action potential
regulation of ion transmembrane transport
sodium ion transmembrane transport
myelination
neuron apoptotic process
regulation of postsynaptic membrane potential
membrane depolarization during action potential

Function(s)

voltage-gated sodium channel activity