Product Details

Assay Reference Genome
Location

Chr.1:20637989 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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PINK1 NM_032409.2 2 629 NP_115785.1
AB053323.1 2 629 BAB55647.1
AF316873.1 2 605 AAK28062.1
BC028215.1 2 544 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 LINC01141 FAM43B PINK1 PLA2G2D MUL1 MIR6084 UBXN10 PLA2G2C PLA2G5 PINK1-AS VWA5B1 CDA PLA2G2F DDOST KIF17 UBXN10-AS1 SH2D5 HP1BP3 CAMK2N1
nsv834369 Chr1:20609770 - 20779837 on Build GRCh38 Loss CDA PINK1 DDOST KIF17 MIR6084 SH2D5 HP1BP3 PINK1-AS

View Full Product Details