Hs04528792_cn

• Gene Symbol: BSND
• Assay Reference Genome Location: Chr.1:55001379 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 7809
• Gene Name: barttin CLCNK type accessory beta subunit
• Gene Aliases: BART, DFNB73
• Location: Chr.1:54998944-55008792 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BSND	NM_057176.2			NP_476517.1
	AK129999.1
	AY034632.1			AAK57750.1
	BC103898.1			AAI03899.1
	BC103899.1			AAI03900.1
	BC103900.1			AAI03901.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv167n100	Chr.1:54985639 - 55038977 on Build GRCh38	Gain	TMEM61 BSND
nsv817614	Chr.1:54580862 - 55735351 on Build GRCh38	Gain	PCSK9 MROH7 MROH7-TTC4 USP24 MIR4422 TMEM61 TTC22 PARS2 BSND DHCR24 LEXM LOC100507634 TTC4 FAM151A ACOT11

More Information

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

Gene Ontology Categories:

Process(es)

ion transmembrane transport
chloride transmembrane transport
regulation of anion transmembrane transport

Function(s)

voltage-gated chloride channel activity
chloride channel activity
chloride channel regulator activity