Genomic Map
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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 Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| ATP5A1 | NM_001001937.1 | NP_001001937.1 | ||
| AU143001.1 | ||||
| CD244623.1 |
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 |
 C18orf25
PSTPIP2
HAUS1
ATP5A1
|
| esv3642424 | Chr.18:46089973 - 46212137 on Build GRCh38 | Gain |
C18orf25
HAUS1
ATP5A1
|
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Additional Information:
For this assay, SNP(s) [rs72903438] 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
|
Panther Classification:
Gene Ontology Categories:
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