Product Details

Assay Reference Genome
Location

Chr.20:409053 on build GRCh38
Cytoband
20p13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
10616
Gene Symbol
RBCK1
Gene Name
RANBP2-type and C3HC4-type zinc finger containing 1
Gene Aliases
C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
Location
Chr.20:408050-432139 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RBCK1 NM_001323956.1 NP_001310885.1
NM_001323958.1 NP_001310887.1
NM_001323960.1 NP_001310889.1
NM_006462.5 NP_006453.1
NM_031229.3 NP_112506.2
NR_136659.1
XM_005260645.1 XP_005260702.1
XM_011529137.1 XP_011527439.1
XM_011529138.1 XP_011527440.1
XM_011529139.2 XP_011527441.1
XM_011529140.1 XP_011527442.1
XM_017027594.1 XP_016883083.1
AB107766.1 BAC75409.1
AK297524.1
AK303357.1
AK309414.1
BC015219.2 AAH15219.2
U67322.1 AAD00162.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3644953 Chr20:397290 - 502310 on Build GRCh38 Gain CSNK2A1 RBCK1 TBC1D20 TRIB3
esv3644952 Chr20:386013 - 1119183 on Build GRCh38 Gain ANGPT4 CSNK2A1 TCF15 SRXN1 FAM110A PSMF1 SLC52A3 RBCK1 SCRT2 TBC1D20 TRIB3 LOC105372493 RSPO4
esv3644956 Chr20:405365 - 446917 on Build GRCh38 Gain RBCK1 TBC1D20
nsv1056266 Chr20:401152 - 522755 on Build GRCh38 Gain CSNK2A1 RBCK1 TBC1D20
nsv510777 Chr20:366849 - 416704 on Build GRCh38 Deletion RBCK1 TRIB3
nsv585170 Chr20:380145 - 422066 on Build GRCh38 Loss RBCK1 TRIB3
dgv4219n100 Chr20:80652 - 461103 on Build GRCh38 Gain SOX12 DEFB132 NRSN2 LOC101929937 DEFB126 RBCK1 DEFB129 ZCCHC3 DEFB128 DEFB127 TBC1D20 NRSN2-AS1 C20orf96 TRIB3 DEFB125
esv3893263 Chr20:216521 - 434561 on Build GRCh38 Loss RBCK1 DEFB129 ZCCHC3 SOX12 DEFB132 NRSN2 NRSN2-AS1 C20orf96 TRIB3 LOC101929937

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