Hs04770070_cn

• Gene Symbol: COL8A1
• Assay Reference Genome Location: Chr.3:99655512 on build GRCh38
• Cytoband: 3q12.1

Target Gene Details

• Entrez Gene ID: 1295
• Gene Name: collagen type VIII alpha 1
• Gene Aliases: C3orf7
• Location: Chr.3:99638596-99796733 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL8A1	NM_001850.4			NP_001841.2
	NM_020351.3			NP_065084.2
	AF170702.1			AAF89665.1
	AK311449.1
	BC013581.1			AAH13581.1
	CA393523.1
	CN484310.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3597151	Chr.3:99516655 - 99690858 on Build GRCh38	Gain	LOC105374008 COL8A1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

angiogenesis
cell adhesion
positive regulation of cell-substrate adhesion
extracellular matrix organization
collagen catabolic process
endodermal cell differentiation
camera-type eye morphogenesis
epithelial cell proliferation

Function(s)

protein binding