Product Details

Assay Reference Genome Location: Chr.1:13898247 on build GRCh38
Cytoband: 1p36.21
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 23254
Gene Symbol: KAZN
Gene Name: kazrin, periplakin interacting protein
Gene Aliases: KAZ
Location: Chr.1:13893387-15118048 on build GRCh38
Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
KAZN	XM_005245795.4			XP_005245852.1
	XM_011541074.2			XP_011539376.1
	XM_011541080.2			XP_011539382.1
	XM_017000768.1			XP_016856257.1
	XM_017000769.1			XP_016856258.1
	XM_017000770.1			XP_016856259.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3577742	Chr1:13881586 - 13901995 on Build GRCh38	Loss	KAZN
nsv545567	Chr1:13558784 - 14026576 on Build GRCh38	Gain	KAZN PDPN PRDM2
esv3585267	Chr1:13896407 - 13901691 on Build GRCh38	Loss	KAZN

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