Assay Details
Target Gene Details
Entrez Gene ID: | 2071 |
Gene Name: | ERCC excision repair 3, TFIIH core complex helicase subunit |
Gene Aliases: |
BTF2, GTF2H, RAD25, TFIIH, TTD2, XPB |
Location: |
Chr.2:127257290-127294176 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC3 | NM_000122.1 | 15 | 2422 | NP_000113.1 |
NM_001303416.1 | 15 | 2537 | NP_001290345.1 | |
NM_001303418.1 | 15 | 2599 | NP_001290347.1 | |
XM_011510794.1 | 15 | 2401 | XP_011509096.1 | |
XM_011510795.1 | 15 | 2275 | XP_011509097.1 | |
XM_017003583.1 | 15 | 2257 | XP_016859072.1 | |
AI222871.1 | 1 | 349 | ||
AK091500.1 | 15 | 2524 | ||
AK095557.1 | 15 | 2599 | ||
AK126697.1 | 2 | 4258 | ||
AK127469.1 | 11 | 4298 | ||
AK222465.1 | 15 | 2389 | BAD96185.1 | |
AK290474.1 | 15 | 2348 | ||
BC008820.2 | 15 | 2391 | AAH08820.1 | |
M31899.1 | 15 | 2422 | AAA52396.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3592356 | Chr.2:127238110 - 127262002 on Build GRCh38 | Gain | ERCC3 |
dgv4066n100 | Chr.2:127072541 - 127274970 on Build GRCh38 | Gain | BIN1 ERCC3 CYP27C1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |