SCN2A (Entrez ID: 6326)

Entrez Gene ID	6326
Official Gene Symbol	SCN2A (GeneCards)
Full name	sodium voltage-gated channel alpha subunit 2
Location	2q24.3
Other ids	Vega : OTTHUMG00000044172 MIM : 182390 HGNC : HGNC:10588 Ensembl : ENSG00000136531
Other names	HBA, NAC2, BFIC3, BFIS3, BFNIS, HBSCI, EIEE11, HBSCII, Nav1.2, SCN2A1, SCN2A2, Na(v)1.2
Summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Variants

Found 11 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
3801	6326	SCN2A	2	166311903	166311903	Asymptomatic	HiSeq X Ten
4165	6326	SCN2A	2	166144389	166144389	Asymptomatic	HiSeq X Ten
29728	6326	SCN2A	2	166211152	166211152	Autism Spectrum Disorders	HiSeq X Ten NextSeq500
30212	6326	SCN2A	2	166210777	166210777	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR
30213	6326	SCN2A	2	166201203	166201203	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture
30214	6326	SCN2A	2	166198881	166198881	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing
30215	6326	SCN2A	2	166237619	166237619	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing
30216	6326	SCN2A	2	166201153	166201153	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing
30217	6326	SCN2A	2	166165888	166165888	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing
30218	6326	SCN2A	2	166231223	166231223	EIEE11	HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing
30219	6326	SCN2A	2	166231223	166231223		HiSeq X Ten NextSeq500 Raindance Emulsion PCR Custom capture Whole Exome Sequencing