Product Details

Assay Reference Genome Location: Chr.1:111449319 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
ATP5F1	NM_001688.4	1	199	NP_001679.2
	AK308266.1	2	235
	BF237506.1	1	315

Entrez Gene ID: 79084
Gene Symbol: WDR77
Gene Name: WD repeat domain 77
Gene Aliases: HKMT1069, MEP-50, MEP50, Nbla10071, p44, p44/Mep50
Location: Chr.1:111439890-111449308 on build GRCh38
Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
WDR77	NM_001317062.1			NP_001303991.1
	NM_001317063.1			NP_001303992.1
	NM_001317064.1			NP_001303993.1
	NM_024102.3			NP_077007.1
	NR_133654.1
	DB105102.1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv463250	Chr1:111195294 - 111519590 on Build GRCh38	Loss	PGCP1 ATP5F1 WDR77 TMIGD3 CHI3L2 CHIAP2 OVGP1 PIFO DENND2D C1orf162 ADORA3 CHIA

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