Assay Details
Target Gene Details
Entrez Gene ID: | 1825 |
Gene Name: | desmocollin 3 |
Gene Aliases: |
CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP |
Location: |
Chr.18:30989365-31042815 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DSC3 | NM_001941.4 | 16 | 2748 | NP_001932.2 |
NM_024423.3 | 17 | 2791 | NP_077741.2 | |
AF297090.1 | 5 | 855 | AAG17896.1 | |
AK291748.1 | 16 | 2674 | ||
BG214334.1 | 2 | 148 | ||
BG697535.1 | 5 | 761 | ||
D17427.1 | 16 | 2660 | BAA04249.1 | |
X83929.1 | 17 | 2614 | CAA58781.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833613 | Chr.18:30866488 - 31043633 on Build GRCh38 | Gain+Loss | DSC3 |
nsv470414 | Chr.18:30986699 - 30996567 on Build GRCh38 | Loss | DSC3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |