Hs05740656_cn

• Gene Symbol: C1QB
• Assay Reference Genome Location: Chr.1:22657826 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 713
• Gene Name: complement C1q B chain
• Gene Aliases: -
• Location: Chr.1:22653189-22661536 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C1QB	NM_000491.3			NP_000482.3
	XM_011542059.2			XP_011540361.1
	BC008983.1			AAH08983.1
	BQ711602.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34161	Chr.1:22599762 - 22817730 on Build GRCh38	Loss	MIR6127 EPHB2 C1QC MIR4684 EPHA8 C1QB C1QA

More Information

Additional Information:

For this assay, SNP(s) [rs72651399] 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)

proteolysis
complement activation
complement activation, classical pathway
innate immune response
inner ear development

Function(s)

serine-type endopeptidase activity
protein binding
protein homodimerization activity