Product Details

Assay Reference Genome
Location

Chr.16:46662307 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 15
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
VPS35 NM_018206.5 15 2102 NP_060676.2
XM_005256045.3 14 1987 XP_005256102.1
XM_011523227.2 15 2832 XP_011521529.1
AF175265.1 15 2060 AAF89953.1
AF183418.1 14 2011 AAG09687.1
AF186382.1 15 2056 AAG40619.1
AF191298.2 15 2030 AAF02778.2
AK000395.1 3 463 BAA91137.1
AK001614.1 15 2050 BAA91790.1
AK023650.1 11 1613 BAB14626.1
AK223218.1 15 2021 BAD96938.1
AL136888.1 15 2050 CAB66822.1
AL512769.1 8 1107 CAC21686.1
AY007112.1 4 613 AAG01989.1
BC002414.2 14 2009 AAH02414.1
BC010362.1 15 2023 AAH10362.1
BC093036.1 15 2048 AAH93036.1
BX647213.1 10 2392 CAI46268.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv572536 Chr16:46660737 - 46693473 on Build GRCh38 Loss ORC6 VPS35
nsv526656 Chr16:46505480 - 46812751 on Build GRCh38 Gain ORC6 VPS35 MYLK3 C16orf87 ANKRD26P1 SHCBP1
nsv428327 Chr16:46523056 - 46684578 on Build GRCh38 Gain VPS35 ANKRD26P1 SHCBP1
dgv2975n100 Chr16:46429858 - 46768065 on Build GRCh38 Gain ORC6 VPS35 MYLK3 ANKRD26P1 SHCBP1
esv3571142 Chr16:46430577 - 46840772 on Build GRCh38 Gain ORC6 VPS35 MYLK3 C16orf87 ANKRD26P1 SHCBP1
esv3638534 Chr16:46547097 - 46716009 on Build GRCh38 Gain ORC6 VPS35 MYLK3 ANKRD26P1 SHCBP1

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