Product Details

Assay Reference Genome
Location

Chr.16:46663090 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 14
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
VPS35 NM_018206.5 14 1819 NP_060676.2
XM_005256045.3 13 1704 XP_005256102.1
XM_011523227.2 14 2549 XP_011521529.1
AF175265.1 14 1777 AAF89953.1
AF183418.1 13 1728 AAG09687.1
AF186382.1 14 1773 AAG40619.1
AF191298.2 14 1747 AAF02778.2
AK000395.1 2 180 BAA91137.1
AK001614.1 14 1767 BAA91790.1
AK023650.1 10 1330 BAB14626.1
AK223218.1 14 1738 BAD96938.1
AL136888.1 14 1767 CAB66822.1
AL512769.1 7 824 CAC21686.1
AY007112.1 3 330 AAG01989.1
BC002414.2 13 1726 AAH02414.1
BC010362.1 14 1740 AAH10362.1
BC093036.1 14 1765 AAH93036.1
BX647213.1 9 2109 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 VPS35 ORC6
nsv526656 Chr16:46505480 - 46812751 on Build GRCh38 Gain MYLK3 C16orf87 SHCBP1 VPS35 ORC6 ANKRD26P1
nsv428327 Chr16:46523056 - 46684578 on Build GRCh38 Gain SHCBP1 VPS35 ANKRD26P1
dgv2975n100 Chr16:46429858 - 46768065 on Build GRCh38 Gain MYLK3 SHCBP1 VPS35 ORC6 ANKRD26P1
esv3571142 Chr16:46430577 - 46840772 on Build GRCh38 Gain MYLK3 C16orf87 SHCBP1 VPS35 ORC6 ANKRD26P1
esv3638534 Chr16:46547097 - 46716009 on Build GRCh38 Gain MYLK3 SHCBP1 VPS35 ORC6 ANKRD26P1

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