Hs05299598_cn

• Gene Symbol: VWA8
• Assay Reference Genome Location: Chr.13:41582188 on build GRCh38
• Cytoband: 13q14.11

Target Gene Details

• Entrez Gene ID: 23078
• Gene Name: von Willebrand factor A domain containing 8
• Gene Aliases: KIAA0564
• Location: Chr.13:41566825-41961111 on Build GRCh38
• Assay Gene Location: Within Intron 49

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VWA8	NM_015058.1			NP_055873.1
	XM_006719791.3			XP_006719854.1
	XM_017020469.1			XP_016875958.1
	XM_017020472.1			XP_016875961.1
	XM_017020473.1			XP_016875962.1
	AB011136.1			BAA25490.1
	AK025432.1
	AK308568.1
	BC131802.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160106	Chr.13:41576436 - 41650277 on Build GRCh38	Deletion	VWA8
dgv1634n100	Chr.13:41408612 - 41936985 on Build GRCh38	Gain	OR7E37P MIR5006 RGCC VWA8
nsv561539	Chr.13:41522908 - 41951740 on Build GRCh38	Gain	MIR5006 VWA8

More Information

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

Gene Ontology Categories:

Function(s)

ATP binding
ATPase activity