Product Details

Assay Reference Genome
Location

Chr.1:111460649 on build GRCh38
Cytoband
1p13.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
515
Gene Symbol
ATP5F1
Gene Name
ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1
Gene Aliases
PIG47
Location
Chr.1:111449121-111461918 on build GRCh38
Assay Gene Location
Within Intron 6
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
ATP5F1 NM_001688.4 NP_001679.2
AK223018.1 BAD96738.1
AK291077.1
AK311287.1
AK313541.1
AW385236.1
AY871272.1
BC005366.1 AAH05366.1
BC005960.1 AAH05960.1
BC016350.1 AAH16350.1
X60221.1 CAA42782.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv946140 Chr1:111459496 - 111461523 on Build GRCh38 Duplication ATP5F1
nsv463250 Chr1:111195294 - 111519590 on Build GRCh38 Loss TMIGD3 C1orf162 PGCP1 ATP5F1 CHIAP2 PIFO CHI3L2 CHIA OVGP1 DENND2D WDR77 ADORA3

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