Product Details

Assay Reference Genome
Location

Chr.16:46659872 on build GRCh38
Cytoband
16q11.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
55737
Gene Symbol
VPS35
Gene Name
VPS35 retromer complex component
Gene Aliases
MEM3, PARK17
Location
Chr.16:46657979-46689232 on build GRCh38
Assay Gene Location
Within Exon 17
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
VPS35 NM_018206.5 17 3090 NP_060676.2
XM_005256045.3 16 2975 XP_005256102.1
AF186382.1 18 3009 AAG40619.1
BM971213.1 1 209
BQ574179.1 1 209
BX647213.1 10 4827 CAI46268.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv526656 Chr16:46505480 - 46812751 on Build GRCh38 Gain C16orf87 SHCBP1 VPS35 ANKRD26P1 ORC6 MYLK3
nsv428327 Chr16:46523056 - 46684578 on Build GRCh38 Gain SHCBP1 VPS35 ANKRD26P1
dgv2975n100 Chr16:46429858 - 46768065 on Build GRCh38 Gain SHCBP1 VPS35 ANKRD26P1 ORC6 MYLK3
esv3571142 Chr16:46430577 - 46840772 on Build GRCh38 Gain C16orf87 SHCBP1 VPS35 ANKRD26P1 ORC6 MYLK3
esv3638534 Chr16:46547097 - 46716009 on Build GRCh38 Gain SHCBP1 VPS35 ANKRD26P1 ORC6 MYLK3

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