Product Details

Assay Reference Genome Location: Chr.1:20641452 on build GRCh38
Cytoband: 1p36.12
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 65018
Gene Symbol: PINK1
Gene Name: PTEN induced putative kinase 1
Gene Aliases: BRPK, PARK6
Location: Chr.1:20633455-20651511 on build GRCh38
Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PINK1	NM_032409.2			NP_115785.1
	AB053323.1			BAB55647.1
	AF316873.1			AAK28062.1
	AK130746.1
	BC028215.1			AAH28215.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv545731	Chr1:19989106 - 20776306 on Build GRCh38	Gain	KIF17 DDOST VWA5B1 PLA2G2D CDA LINC01141 PLA2G2F MIR6084 PINK1-AS HP1BP3 UBXN10 PINK1 UBXN10-AS1 FAM43B SH2D5 PLA2G2C MUL1 CAMK2N1 PLA2G5
nsv834369	Chr1:20609770 - 20779837 on Build GRCh38	Loss	KIF17 PINK1 DDOST CDA SH2D5 MIR6084 PINK1-AS HP1BP3

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