Hs07525424_cn

• Gene Symbol: CREB3L2
• Assay Reference Genome Location: Chr.7:137954492 on build GRCh38
• Cytoband: 7q33

Target Gene Details

• Entrez Gene ID: 64764
• Gene Name: cAMP responsive element binding protein 3 like 2
• Gene Aliases: BBF2H7
• Location: Chr.7:137874979-138002101 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CREB3L2	NM_001253775.1			NP_001240704.1
	NM_194071.3			NP_919047.2
	AJ549092.1			CAD79342.1
	AJ549387.1			CAD79347.1
	AK131517.1			BAD18659.1
	AK293048.1
	BC063666.1			AAH63666.1
	BC110813.1			AAI10814.1
	BC131723.1
	BQ711676.1
	CN394705.1
	CR749563.1			CAH18360.1

Target Gene Details

• Entrez Gene ID: 100130880
• Gene Name: uncharacterized LOC100130880
• Gene Aliases: -
• Location: Chr.7:137953348-137957966 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130880	NM_001243523.1			NP_001230452.1
	DA296601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831150	Chr.7:137815813 - 137968062 on Build GRCh38	Gain+Loss	CREB3L2 LOC100130880 DGKI
esv33947	Chr.7:137235266 - 138283104 on Build GRCh38	Gain	CREB3L2 LOC100130880 MIR4468 DGKI PTN LOC105375527 AKR1D1
nsv518070	Chr.7:137849881 - 138124093 on Build GRCh38	Gain	CREB3L2 LOC100130880 MIR4468 AKR1D1

More Information

Additional Information:

For this assay, SNP(s) [rs79776787] 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

Gene Ontology Categories:

Process(es)

chondrocyte differentiation
transcription from RNA polymerase II promoter
ER to Golgi vesicle-mediated transport
endoplasmic reticulum unfolded protein response
response to endoplasmic reticulum stress
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
cartilage development

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
cAMP response element binding
transcription regulatory region DNA binding