Hs01499811_cn

• Gene Symbol: COL8A2
• Assay Reference Genome Location: Chr.1:36100102 on build GRCh38
• Cytoband: 1p34.3

Target Gene Details

• Entrez Gene ID: 1296
• Gene Name: collagen type VIII alpha 2
• Gene Aliases: FECD, FECD1, PPCD, PPCD2
• Location: Chr.1:36095236-36126207 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL8A2	NM_001294347.1			NP_001281276.1
	NM_005202.3			NP_005193.1
	XM_005270477.3			XP_005270534.1
	AK074129.1
	BC096295.1			AAH96295.1
	BC096296.3			AAH96296.1
	BC096297.1			AAH96297.1
	BC099645.1			AAH99645.1
	HY025990.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834691	Chr.1:36059137 - 36238540 on Build GRCh38	Loss	TRAPPC3 TEKT2 ADPRHL2 MAP7D1 AGO3 COL8A2 THRAP3
nsv545992	Chr.1:36091266 - 36161590 on Build GRCh38	Loss	TRAPPC3 ADPRHL2 MAP7D1 COL8A2

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

angiogenesis
single organismal cell-cell adhesion
extracellular matrix organization
collagen catabolic process
camera-type eye morphogenesis
epithelial cell proliferation

Function(s)

extracellular matrix structural constituent
protein binding, bridging