Assay Details
Target Gene Details
Entrez Gene ID: | 2067 |
Gene Name: | ERCC excision repair 1, endonuclease non-catalytic subunit |
Gene Aliases: |
COFS4, RAD10, UV20 |
Location: |
Chr.19:45407333-45478866 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC1 | XM_005258636.4 | XP_005258693.1 | ||
XM_011526610.2 | XP_011524912.1 | |||
XM_017026459.1 | XP_016881948.1 | |||
XM_017026461.1 | XP_016881950.1 | |||
XM_017026462.1 | XP_016881951.1 | |||
XM_017026463.1 | XP_016881952.1 | |||
XM_017026464.1 | XP_016881953.1 | |||
XM_017026466.1 | XP_016881955.1 | |||
AK092039.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833845 | Chr.19:45308814 - 45457371 on Build GRCh38 | Loss | CD3EAP KLC3 ERCC1 MIR6088 ERCC2 CKM PPP1R13L |
nsv833846 | Chr.19:45381005 - 45469089 on Build GRCh38 | Loss | FOSB CD3EAP ERCC1 MIR6088 PPP1R13L |
nsv428365 | Chr.19:45358027 - 45469089 on Build GRCh38 | Gain+Loss | FOSB CD3EAP ERCC1 MIR6088 ERCC2 PPP1R13L |
More Information
Additional Information:
For this assay, SNP(s) [rs73564966] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |