Name: [Hs02893815_cn] [KBTBD4]
Creator: Thermo Fisher Scientific
Keywords: [KBTBD4] Assay, [kelch repeat and BTB domain containing 4] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	55709
Gene Name:	kelch repeat and BTB domain containing 4
Gene Aliases:	BKLHD4, HSPC252
Location:	Chr.11:47572197-47579015 on Build GRCh38
Assay Gene Location:	Overlaps - Exon 1

Gene Symbol	Transcript Accession	Protein ID
KBTBD4	NM_001318717.1	NP_001305646.1
	NM_001318718.1	NP_001305647.1
	NM_001318719.1	NP_001305648.1
	NM_001318720.1	NP_001305649.1
	NM_001318721.1	NP_001305650.1
	NM_001318722.1	NP_001305651.1
	NM_001318723.1	NP_001305652.1
	NM_001318724.1	NP_001305653.1
	NM_016506.6	NP_057590.3
	NM_018095.5	NP_060565.4
	XM_017018009.1	XP_016873498.1
	AF151086.1	AAF36172.1
	AK001312.1	BAA91616.1
	AK001749.1	BAA91880.1
	AK222550.1	BAD96270.1
	AK222985.1
	AK225062.1
	BC002736.2	AAH02736.1
	BI908078.1
	DA016320.1
	DA170281.1
	DA559313.1
	DA883418.1
	DB457928.1
	HY062454.1
	HY120885.1
	HY176105.1

Target Gene Details

Entrez Gene ID:	4722
Gene Name:	NADH:ubiquinone oxidoreductase core subunit S3
Gene Aliases:	CI-30
Location:	Chr.11:47579010-47584563 on Build GRCh38
Assay Gene Location:	Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS3	NM_004551.2			NP_004542.1
NDUFS3	DA893277.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv832142	Chr.11:47496403 - 47659758 on Build GRCh38	Loss	NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B AGBL2 CELF1
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B AGBL2
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B CELF1
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	NDUFS3 KBTBD4 PTPMT1 CELF1