Assay Details
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 Exon 48 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VWA8 | NM_015058.1 | 41 | 5130 | NP_055873.1 |
XM_006719791.3 | 33 | 4086 | XP_006719854.1 | |
XM_017020469.1 | 43 | 5189 | XP_016875958.1 | |
XM_017020472.1 | 25 | 3118 | XP_016875961.1 | |
XM_017020473.1 | 24 | 3011 | XP_016875962.1 | |
AB011136.1 | 30 | 3670 | BAA25490.1 | |
AK025432.1 | 1 | 72 | ||
BC131802.1 | 42 | 4963 |
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 | RGCC VWA8 MIR5006 OR7E37P |
esv3402311 | Chr.13:41589116 - 41590914 on Build GRCh38 | Duplication | VWA8 |
nsv561539 | Chr.13:41522908 - 41951740 on Build GRCh38 | Gain | VWA8 MIR5006 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |