Hs00054402_cn

• Gene Symbol: SCNN1A
• Assay Reference Genome Location: Chr.12:6374480 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 6337
• Gene Name: sodium channel epithelial 1 alpha subunit
• Gene Aliases: BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
• Location: Chr.12:6346843-6377357 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCNN1A	NM_001038.5	2	593	NP_001029.1
	NM_001159575.1	2	464	NP_001153047.1
	NM_001159576.1	1	745	NP_001153048.1
	AK172792.1	1	746
	AK304379.1	2	466
	BC006526.2	1	431	AAH06526.2
	BC062613.1	1	360	AAH62613.1
	DB232484.1
	DQ402522.1	1	304
	X76180.1	2	403	CAA53773.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952790	Chr.12:6368835 - 6394034 on Build GRCh38	Deletion	SCNN1A LTBR
esv34325	Chr.12:6342424 - 6513183 on Build GRCh38	Gain	SCARNA10 CD27-AS1 CD27 NCAPD2 SCNN1A VAMP1 LTBR TAPBPL MRPL51
esv2759876	Chr.12:6344718 - 6554669 on Build GRCh38	Gain	IFFO1 SCARNA10 CD27-AS1 GAPDH CD27 NCAPD2 SCNN1A VAMP1 LTBR TAPBPL MRPL51

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

ion transmembrane transport
sodium ion transmembrane transport
multicellular organismal water homeostasis
response to stimulus
sensory perception of taste
sodium ion homeostasis

Function(s)

actin binding
protein binding
ligand-gated sodium channel activity
WW domain binding