Assay Details
Target Gene Details
Entrez Gene ID: | 100526740 |
Gene Name: | ATP5J2-PTCD1 readthrough |
Gene Aliases: |
- |
Location: |
Chr.7:99416739-99466201 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5J2-PTCD1 | NM_001198879.1 | 3 | 456 | NP_001185808.1 |
AK295912.1 | 3 | 419 |
Target Gene Details
Entrez Gene ID: | 26024 |
Gene Name: | pentatricopeptide repeat domain 1 |
Gene Aliases: |
- |
Location: |
Chr.7:99416739-99438839 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTCD1 | NM_015545.3 | 2 | 423 | NP_056360.2 |
AB014532.1 | 2 | 331 | ||
AK001615.1 | 2 | 338 | ||
AK291004.1 | 2 | 314 | ||
BC080580.1 | 2 | 371 | AAH80580.1 | |
BC103495.1 | 2 | 348 | AAI03496.1 | |
BC103502.1 | 2 | 348 | AAI03503.1 | |
BC103661.1 | AAI03662.1 | |||
BG717613.1 | 2 | 422 | ||
DA770648.1 | 2 | 423 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv5864 | Chr.7:99411680 - 99443573 on Build GRCh38 | Insertion | ATP5J2-PTCD1 CPSF4 PTCD1 BUD31 |
nsv831069 | Chr.7:99350505 - 99529961 on Build GRCh38 | Loss | ATP5J2-PTCD1 CPSF4 PTCD1 ARPC1B ATP5J2 ZKSCAN5 ZNF789 ARPC1A ZNF394 PDAP1 BUD31 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |