Hs06074155_cn

• Gene Symbol: GABRB2
• Assay Reference Genome Location: Chr.5:161296961 on build GRCh38
• Cytoband: 5q34

Target Gene Details

• Entrez Gene ID: 2561
• Gene Name: gamma-aminobutyric acid type A receptor beta2 subunit
• Gene Aliases: -
• Location: Chr.5:161288429-161548124 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABRB2	NM_000813.2			NP_000804.1
	NM_021911.2			NP_068711.1
	A28108.1			CAA01922.1
	AK289730.1
	AK289815.1
	AK294437.1
	BC099705.1			AAH99705.1
	BC099719.1			AAH99719.1
	BC105639.1			AAI05640.1
	GU086163.1
	S67368.1			AAB29370.1
	S77553.1			AAB33982.1
	S77554.1			AAB33983.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5100	Chr.5:161264110 - 161308790 on Build GRCh38	Deletion	GABRB2
esv3607398	Chr.5:161183978 - 161302078 on Build GRCh38	Gain	GABRB2

More Information

Additional Information:

For this assay, SNP(s) [rs72811500] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
gamma-aminobutyric acid signaling pathway
chemical synaptic transmission
sensory perception of sound
ion transmembrane transport
negative regulation of neuron apoptotic process
synaptic transmission, GABAergic
inner ear receptor cell development
innervation
cellular response to histamine
cochlea development
chloride transmembrane transport

Function(s)

GABA-A receptor activity
inhibitory extracellular ligand-gated ion channel activity
chloride channel activity