Hs04992780_cn

• Gene Symbol: CLCN1
• Assay Reference Genome Location: Chr.7:143318132 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 1180
• Gene Name: chloride voltage-gated channel 1
• Gene Aliases: CLC1
• Location: Chr.7:143316126-143352008 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLCN1	NM_000083.2			NP_000074.2
	NR_046453.1
	BC112156.1			AAI12157.1
	BC113495.1
	Z25884.1			CAA81103.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831169	Chr.7:143188183 - 143348025 on Build GRCh38	Loss	CLCN1 CASP2 GSTK1 TMEM139 LOC105375545 TAS2R40
nsv5984	Chr.7:143305004 - 143350170 on Build GRCh38	Deletion	CLCN1 CASP2
nsv5985	Chr.7:143308794 - 143338476 on Build GRCh38	Insertion	CLCN1

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

muscle contraction
neuronal action potential propagation
ion transmembrane transport
chloride transmembrane transport
regulation of anion transmembrane transport

Function(s)

voltage-gated chloride channel activity
protein binding
chloride ion binding
protein homodimerization activity