Hs06828741_cn

• Gene Symbol: LRRC8A
• Assay Reference Genome Location: Chr.9:128883146 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 56262
• Gene Name: leucine rich repeat containing 8 family member A
• Gene Aliases: AGM5, LRRC8, SWELL1
• Location: Chr.9:128882112-128918042 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRRC8A	NM_001127244.1			NP_001120716.1
	NM_001127245.1			NP_001120717.1
	NM_019594.3			NP_062540.2
	XM_005252095.2			XP_005252152.1
	XM_006717186.2			XP_006717249.1
	XM_011518863.1			XP_011517165.1
	XM_011518864.2			XP_011517166.1
	AB037858.1
	AK289842.1
	BC051322.1			AAH51322.1
	BX376144.2
	DA243590.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3621819	Chr.9:128877077 - 128887549 on Build GRCh38	Gain	LRRC8A KYAT1

More Information

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

Gene Ontology Categories:

Process(es)

pre-B cell differentiation
anion transport
cell volume homeostasis
response to osmotic stress
regulation of anion transport
anion transmembrane transport

Function(s)

volume-sensitive anion channel activity
anion channel activity
protein binding