Assay Details
Target Gene Details
Entrez Gene ID: | 2059 |
Gene Name: | epidermal growth factor receptor pathway substrate 8 |
Gene Aliases: |
DFNB102 |
Location: |
Chr.12:15620141-15789576 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8 | NM_004447.5 | 13 | 1639 | NP_004438.3 |
XM_011520605.2 | 14 | 1699 | XP_011518907.1 | |
AK291777.1 | 13 | 1444 | ||
AK292931.1 | 13 | 1296 | ||
AK301834.1 | 6 | 629 | ||
AK304860.1 | 13 | 1639 | ||
AK316134.1 | 6 | 548 | ||
AK316239.1 | 6 | 821 | ||
BC030010.2 | 13 | 1451 | AAH30010.1 | |
U12535.1 | 13 | 1411 | AAA62280.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2760899 | Chr.12:15643377 - 15943563 on Build GRCh38 | Gain | EPS8 DERA STRAP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |