Assay Details
Target Gene Details
Entrez Gene ID: | 498 |
Gene Name: | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle |
Gene Aliases: |
ATP5A, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MOM2, OMR, ORM, hATP1 |
Location: |
Chr.18:46084144-46104233 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5A1 | NM_001001935.2 | 1 | 128 | NP_001001935.1 |
NM_001001937.1 | NP_001001937.1 | |||
NM_001257334.1 | 1 | 128 | NP_001244263.1 | |
NM_001257335.1 | 1 | 128 | NP_001244264.1 | |
NM_004046.5 | 1 | 128 | NP_004037.1 | |
XM_017025789.1 | XP_016881278.1 | |||
AK092735.1 | ||||
AK098765.1 | ||||
AK129739.1 | ||||
AK129900.1 | ||||
AK289457.1 | ||||
AK302272.1 | ||||
AK310051.1 | 1 | 90 | ||
AU120644.1 | 1 | 96 | ||
AU143001.1 | ||||
BC011384.1 | AAH11384.1 | |||
BC016046.1 | AAH16046.1 | |||
BC019310.1 | AAH19310.1 | |||
BC039135.1 | ||||
BC064562.1 | AAH64562.1 | |||
BC067385.1 | AAH67385.1 | |||
BT007209.1 | AAP35873.1 | |||
CD244623.1 | ||||
CK002707.1 | 1 | 128 | ||
D14710.1 | BAA03531.1 | |||
FJ224309.1 | ||||
X59066.1 | CAA41789.1 | |||
X65460.1 | CAA46452.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3642420 | Chr.18:45996630 - 46208987 on Build GRCh38 | Gain | ATP5A1 HAUS1 C18orf25 PSTPIP2 |
esv3642424 | Chr.18:46089973 - 46212137 on Build GRCh38 | Gain | ATP5A1 HAUS1 C18orf25 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |