Hs00508469_cn

• Gene Symbol: C1QA
• Assay Reference Genome Location: Chr.1:22637668 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 712
• Gene Name: complement C1q A chain
• Gene Aliases: -
• Location: Chr.1:22636625-22639682 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C1QA	NM_015991.2	2	137	NP_057075.1
	AF135157.1	1	64	AAD32626.1
	AF260332.1	1	70	AAG44663.1
	AK311980.1	2	80
	BC030153.2	2	107	AAH30153.1
	BC071986.1	1	73	AAH71986.1
	BG548439.1	2	138

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 C1QB EPHB2 C1QA MIR4684 C1QC EPHA8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

proteolysis
complement activation
complement activation, classical pathway
cell-cell signaling
response to iron ion
innate immune response

Function(s)

serine-type endopeptidase activity
protein binding