Hs01453439_cn

• Gene Symbol: ASIC1
• Assay Reference Genome Location: Chr.12:50059772 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 41
• Gene Name: acid sensing ion channel subunit 1
• Gene Aliases: ACCN2, ASIC, BNaC2
• Location: Chr.12:50057637-50083622 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASIC1	NM_001095.3			NP_001086.2
	NM_020039.3			NP_064423.2
	NR_046389.1
	XM_011538350.1			XP_011536652.1
	XM_011538351.2			XP_011536653.1
	XM_011538352.1			XP_011536654.1
	AK290010.1
	BC133707.1
	EU078959.1
	U78180.1			AAB48980.1
	U78181.1			AAB48981.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558837	Chr.12:49955982 - 50073986 on Build GRCh38	Loss	AQP2 ASIC1 LOC101927318 AQP6 AQP5 RACGAP1
nsv558840	Chr.12:50056193 - 50130181 on Build GRCh38	Loss	CERS5 ASIC1 SMARCD1 GPD1 COX14

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

transport
sodium ion transport
signal transduction
memory
associative learning
response to pH
response to acidic pH
ion transmembrane transport
sodium ion transmembrane transport
regulation of membrane potential
negative regulation of neurotransmitter secretion
sensory perception of sour taste
protein homotrimerization
calcium ion transmembrane transport
cellular response to pH

Function(s)

protein binding
ligand-gated sodium channel activity
ion gated channel activity
acid-sensing ion channel activity