Hs01185507_cn

• Gene Symbol: GABPB2
• Assay Reference Genome Location: Chr.1:151117493 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 126626
• Gene Name: GA binding protein transcription factor beta subunit 2
• Gene Aliases: GABPB-2
• Location: Chr.1:151070180-151125545 on Build GRCh38
• Assay Gene Location: Overlaps Exon 11 - Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABPB2	NM_001323906.1			NP_001310835.1
	NM_001323907.1			NP_001310836.1
	NM_001323908.1			NP_001310837.1
	NM_001323909.1			NP_001310838.1
	NM_001323910.1			NP_001310839.1
	NM_001323911.1			NP_001310840.1
	NM_001323912.1			NP_001310841.1
	NM_001323913.1			NP_001310842.1
	NM_144618.2			NP_653219.1
	XM_017000246.1			XP_016855735.1
	XM_017000247.1			XP_016855736.1
	XM_017000248.1			XP_016855737.1
	XM_017000249.1			XP_016855738.1
	XM_017000250.1			XP_016855739.1
	XM_017000251.1			XP_016855740.1
	XM_017000252.1			XP_016855741.1
	XM_017000253.1			XP_016855742.1
	XM_017000254.1			XP_016855743.1
	AK092230.1			BAC03833.1
	AK301882.1
	AK313606.1
	BC027033.1			AAH27033.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522840	Chr.1:150961247 - 151375270 on Build GRCh38	Gain	TNFAIP8L2-SCNM1 TNFAIP8L2 LYSMD1 GBAT2 SETDB1 RFX5 PSMD4 LOC100507670 CERS2 SELENBP1 SEMA6C ANXA9 VPS72 GABPB2 TMOD4 ZNF687 MLLT11 PIP5K1A PRUNE1 SCNM1 CDC42SE1 FAM63A PI4KB C1orf56 BNIPL

More Information

Additional Information:

For this assay, SNP(s) [rs77696778] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter

Function(s)

protein binding
protein homodimerization activity
transcription regulatory region DNA binding
protein heterodimerization activity