Product Details

Assay Reference Genome
Location

Chr.16:46685523 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 Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
VPS35 NM_018206.5 NP_060676.2
XM_005256045.3 XP_005256102.1
XM_011523227.2 XP_011521529.1
AF175265.1 AAF89953.1
AF186382.1 AAG40619.1
AF191298.2 AAF02778.2
AK001614.1 BAA91790.1
AK223218.1 BAD96938.1
AL136888.1 CAB66822.1
BC010362.1 AAH10362.1
BC093036.1 AAH93036.1
DB049686.1

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 VPS35 C16orf87 SHCBP1 ANKRD26P1 MYLK3 ORC6
dgv2975n100 Chr16:46429858 - 46768065 on Build GRCh38 Gain VPS35 SHCBP1 ANKRD26P1 MYLK3 ORC6
esv3571142 Chr16:46430577 - 46840772 on Build GRCh38 Gain VPS35 C16orf87 SHCBP1 ANKRD26P1 MYLK3 ORC6
esv3638540 Chr16:46678001 - 46738780 on Build GRCh38 Gain VPS35 MYLK3 ORC6
esv3892855 Chr16:46671431 - 46750308 on Build GRCh38 Loss VPS35 MYLK3 ORC6
esv3638534 Chr16:46547097 - 46716009 on Build GRCh38 Gain VPS35 SHCBP1 ANKRD26P1 MYLK3 ORC6

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