Assay Details
Target Gene Details
Entrez Gene ID: | 2074 |
Gene Name: | ERCC excision repair 6, chromatin remodeling factor |
Gene Aliases: |
ARMD5, CKN2, COFS, COFS1, CSB, POF11, RAD26, UVSS1 |
Location: |
Chr.10:49454480-49539538 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC6 | NM_000124.3 | 21 | 4336 | NP_000115.1 |
AB209504.1 | 15 | 8546 | BAD92741.1 | |
AK130100.1 | ||||
AK303022.1 | 15 | 2585 | ||
BC127104.1 | 21 | 4220 | ||
CR749388.1 | 11 | 1992 | CAH18238.1 | |
L04791.1 | 21 | 4239 | AAA52397.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831867 | Chr.10:49399811 - 49580705 on Build GRCh38 | Gain | ERCC6 PGBD3 |
nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss | AGAP12P C10orf53 C10orf128 WDFY4 SLC18A3 FAM170B C10orf71 FAM170B-AS1 FRMPD2 C10orf71-AS1 OGDHL ARHGAP22 ERCC6 PGBD3 MAPK8 VSTM4 LRRC18 PARG DRGX FAM25C CHAT MIR4294 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |