Product Details

Assay Reference Genome Location: Chr.9:77209400 on build GRCh38
Cytoband: 9q21.2
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 23230
Gene Symbol: VPS13A
Gene Name: vacuolar protein sorting 13 homolog A
Gene Aliases: CHAC, CHOREIN
Location: Chr.9:77177353-77421537 on build GRCh38
Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
VPS13A	NM_001018037.1			NP_001018047.1
	NM_001018038.2			NP_001018048.1
	NM_015186.3			NP_056001.1
	NM_033305.2			NP_150648.2
	AB054005.1			BAB59128.1
	AF337532.1			AAK61861.1
	AJ608769.1			CAE75581.1
	AJ626859.1			CAF25186.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3620768	Chr9:77186688 - 77228922 on Build GRCh38	Loss	VPS13A
nsv614728	Chr9:77195973 - 77375037 on Build GRCh38	Loss	VPS13A

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