Hs05366229_cn

• Gene Symbol: GABRG3
• Assay Reference Genome Location: Chr.15:27158241 on build GRCh38
• Cytoband: 15q12

Target Gene Details

• Entrez Gene ID: 2567
• Gene Name: gamma-aminobutyric acid type A receptor gamma3 subunit
• Gene Aliases: -
• Location: Chr.15:26971282-27537112 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABRG3	NM_001270873.1			NP_001257802.1
	NM_033223.4			NP_150092.2
	XM_011521430.2			XP_011519732.1
	BX282033.1
	DN990720.1
	S82769.1			AAB39369.1

Target Gene Details

• Entrez Gene ID: 101928869
• Gene Name: GABRG3 antisense RNA 1
• Gene Aliases: -
• Location: Chr.15:27157735-27161319 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABRG3-AS1	NR_120343.1
	AA608760.1
	BU567553.1
	DB073112.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2668795	Chr.15:26828644 - 27745218 on Build GRCh38	Deletion	GABRG3-AS1 OCA2 GABRA5 GABRG3
nsv820165	Chr.15:27158059 - 27164500 on Build GRCh38	Gain	GABRG3-AS1 GABRG3
nsv9203	Chr.15:27157533 - 27164927 on Build GRCh38	Gain	GABRG3-AS1 GABRG3
esv3581600	Chr.15:27157510 - 27164655 on Build GRCh38	Loss	GABRG3-AS1 GABRG3
nsv827266	Chr.15:27158029 - 27164240 on Build GRCh38	Loss	GABRG3-AS1 GABRG3
esv2659305	Chr.15:27158055 - 27164639 on Build GRCh38	Deletion	GABRG3-AS1 GABRG3
dgv4408n54	Chr.15:27158056 - 27164655 on Build GRCh38	Loss	GABRG3-AS1 GABRG3
nsv437173	Chr.15:27153403 - 27171221 on Build GRCh38	Loss	GABRG3-AS1 GABRG3
esv24852	Chr.15:27158052 - 27164589 on Build GRCh38	Gain	GABRG3-AS1 GABRG3

More Information

Additional Information:

For this assay, SNP(s) [rs112974579] 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)

gamma-aminobutyric acid signaling pathway
ion transmembrane transport
chloride transmembrane transport

Function(s)

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