Assay Details
Target Gene Details
Entrez Gene ID: | 1830 |
Gene Name: | desmoglein 3 |
Gene Aliases: |
CDHF6, PVA |
Location: |
Chr.18:31447769-31478702 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DSG3 | NM_001944.2 | NP_001935.2 | ||
XM_011525850.1 | XP_011524152.1 | |||
AK290367.1 | ||||
DA458544.1 | ||||
M76482.1 | AAA60230.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv3328n100 | Chr.18:31385807 - 31473928 on Build GRCh38 | Gain | DSG3 DSG4 DSG1-AS1 |
dgv975e212 | Chr.18:31385113 - 31471686 on Build GRCh38 | Gain | DSG3 DSG4 DSG1-AS1 |
esv2751776 | Chr.18:31390184 - 31477756 on Build GRCh38 | Gain | DSG3 DSG4 DSG1-AS1 |
nsv524890 | Chr.18:31387447 - 31476502 on Build GRCh38 | Gain | DSG3 DSG4 DSG1-AS1 |
nsv833615 | Chr.18:31428433 - 31613013 on Build GRCh38 | Gain | TTR DSG3 DSG2 DSG2-AS1 |
dgv5882n54 | Chr.18:31389081 - 31476502 on Build GRCh38 | Gain | DSG3 DSG4 DSG1-AS1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |