Hs02850596_cn

• Gene Symbol: CABP1
• Assay Reference Genome Location: Chr.12:120641323 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 9478
• Gene Name: calcium binding protein 1
• Gene Aliases: CALBRAIN, HCALB_BR
• Location: Chr.12:120640552-120680869 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP1	NM_001033677.1			NP_001028849.1
	XM_017020235.1			XP_016875724.1
	AL533429.3
	BC030201.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521928	Chr.12:120603925 - 121356945 on Build GRCh38	Gain	ANAPC5 P2RX7 C12orf43 CABP1 HNF1A-AS1 HNF1A OASL MIR4700 CAMKK2 UNC119B P2RX4 SPPL3 ACADS XLOC_009911 MLEC

More Information

Additional Information:

For this assay, SNP(s) [rs117649554] 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)

negative regulation of protein import into nucleus
negative regulation of catalytic activity

Function(s)

enzyme inhibitor activity
calcium ion binding
protein binding
nuclear localization sequence binding
calcium-dependent protein binding