Product Details

Assay Reference Genome Location: Chr.1:40308301 on build GRCh38
Cytoband: 1p34.2
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 1298
Gene Symbol: COL9A2
Gene Name: collagen type IX alpha 2
Gene Aliases: DJ39G22.4, EDM2, MED, STL5
Location: Chr.1:40300487-40317653 on build GRCh38
Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
COL9A2	NM_001852.3			NP_001843.1
	XM_006710365.3			XP_006710428.1
	XM_011540715.2			XP_011539017.1
	XM_011540716.2			XP_011539018.1
	XM_011540717.2			XP_011539019.1
	XM_017000332.1			XP_016855821.1
	XM_017000333.1			XP_016855822.1
	BC136326.1
	BC136327.1
	M95610.1			AAA80977.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv950687	Chr1:40294329 - 40321928 on Build GRCh38	Deletion	COL9A2

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