Hs03626957_cn

• Gene Symbol: VWDE
• Assay Reference Genome Location: Chr.7:12330979 on build GRCh38
• Cytoband: 7p21.3

Target Gene Details

• Entrez Gene ID: 221806
• Gene Name: von Willebrand factor D and EGF domains
• Gene Aliases: -
• Location: Chr.7:12330883-12404226 on Build GRCh38
• Assay Gene Location: Within Exon 33

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VWDE	NM_001135924.1	29	5487	NP_001129396.1
	XM_005249641.1	26	4601	XP_005249698.1
	XM_011515174.1	31	5524	XP_011513476.1
	XM_011515175.1	30	5386	XP_011513477.1
	XM_017011828.1	27	4819	XP_016867317.1
	XM_017011829.1	26	4488	XP_016867318.1
	AK027618.1	18	3074	BAB55237.1
	BC144319.1	26	4640

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv6272n100	Chr.7:12311969 - 12404864 on Build GRCh38	Loss	VWDE
nsv1019021	Chr.7:12270819 - 12335890 on Build GRCh38	Loss	VWDE
nsv606199	Chr.7:11466516 - 12447033 on Build GRCh38	Gain	THSD7A VWDE TMEM106B

More Information

Additional Information:

For this assay, SNP(s) [rs73290465] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation