Hs01376367_cn

• Gene Symbol: GABRB3
• Assay Reference Genome Location: Chr.15:26547202 on build GRCh38
• Cytoband: 15q12

Target Gene Details

• Entrez Gene ID: 2562
• Gene Name: gamma-aminobutyric acid type A receptor beta3 subunit
• Gene Aliases: ECA5
• Location: Chr.15:26543546-26773788 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABRB3	NM_000814.5	9	2127	NP_000805.1
	NM_001191320.1	7	1925	NP_001178249.1
	NM_001191321.2	7	1975	NP_001178250.1
	NM_001278631.1	10	2223	NP_001265560.1
	NM_021912.4	9	2077	NP_068712.1
	XM_011521428.2	8	2110	XP_011519730.1
	AK095011.1	1	278
	AK295167.1
	BC010641.1	9	2093	AAH10641.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv144n21	Chr.15:26513916 - 26649934 on Build GRCh38	Gain	GABRB3
nsv568600	Chr.15:26493638 - 26552355 on Build GRCh38	Gain	GABRB3
nsv568598	Chr.15:26082319 - 26575978 on Build GRCh38	Gain	GABRB3 LINC00929

More Information

Additional Information:

For this assay, SNP(s) [rs112387367] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
signal transduction
sensory perception of sound
ion transmembrane transport
negative regulation of neuron apoptotic process
palate development
inhibitory postsynaptic potential
inner ear receptor cell development
innervation
cellular response to histamine
cochlea development
chloride transmembrane transport

Function(s)

GABA-A receptor activity
GABA-gated chloride ion channel activity