Assay Details
Target Gene Details
Entrez Gene ID: | 522 |
Gene Name: | ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6 |
Gene Aliases: |
ATP5, ATP5A, ATPM, CF6, F6 |
Location: |
Chr.21:25724480-25735654 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5J | NM_001003696.1 | 1 | 230 | NP_001003696.1 |
NM_001003697.1 | NP_001003697.1 | |||
NM_001003701.1 | 1 | 230 | NP_001003701.1 | |
NM_001003703.1 | 1 | 230 | NP_001003703.1 | |
NM_001320266.1 | 1 | 230 | NP_001307195.1 | |
NM_001320267.1 | 1 | 230 | NP_001307196.1 | |
NM_001685.4 | 1 | 230 | NP_001676.2 | |
BC001178.1 | 1 | 249 | AAH01178.1 | |
BG938438.1 | ||||
BU174560.1 | 1 | 181 |
Target Gene Details
Entrez Gene ID: | 2551 |
Gene Name: | GA binding protein transcription factor alpha subunit |
Gene Aliases: |
E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A, RCH04A07 |
Location: |
Chr.21:25734947-25772460 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GABPA | NM_001197297.1 | NP_001184226.1 | ||
NM_002040.3 | 1 | 408 | NP_002031.2 | |
XM_005260938.4 | XP_005260995.1 | |||
XM_011529520.2 | 1 | 294 | XP_011527822.1 | |
XM_011529521.2 | 1 | 294 | XP_011527823.1 | |
XM_017028313.1 | XP_016883802.1 | |||
AK223164.1 | BAD96884.1 | |||
AK313545.1 | 1 | 205 | ||
BC035031.2 | AAH35031.1 | |||
BX647755.1 | ||||
CD674081.1 | ||||
D13318.1 | BAA02575.1 | |||
U13044.1 | AAA65706.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1064561 | Chr.21:25714853 - 25750046 on Build GRCh38 | Loss | ATP5J GABPA JAM2 |
More Information
Additional Information:
For this assay, SNP(s) [rs140704996,rs67572468] 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 |