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 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5J2-PTCD1 | NM_001198879.1 | 9 | 2201 | NP_001185808.1 |
AK295912.1 | 9 | 2164 |
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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTCD1 | NM_015545.3 | 8 | 2168 | NP_056360.2 |
AB014532.1 | 8 | 2076 | ||
AB073644.1 | 3 | 450 | ||
AK001615.1 | 8 | 1561 | ||
AK291004.1 | 8 | 2059 | ||
BC003688.1 | 7 | 1681 | AAH03688.2 | |
BC080580.1 | 8 | 2116 | AAH80580.1 | |
BC103495.1 | 8 | 2093 | AAI03496.1 | |
BC103502.1 | 8 | 2093 | AAI03503.1 | |
BC103661.1 | 6 | 1342 | AAI03662.1 |
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 | CPSF4 ATP5J2-PTCD1 PTCD1 BUD31 |
nsv831069 | Chr.7:99350505 - 99529961 on Build GRCh38 | Loss | PDAP1 CPSF4 ZNF789 ARPC1A ARPC1B ATP5J2-PTCD1 ZKSCAN5 PTCD1 BUD31 ZNF394 ATP5J2 |
nsv951382 | Chr.7:99416178 - 99434777 on Build GRCh38 | Deletion | ATP5J2-PTCD1 PTCD1 BUD31 |
More Information
Additional Information:
For this assay, SNP(s) [rs114658645] 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 Exonic DGV Variation |