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See other RUVBL2 CNV Assays ›
Gene Symbol
RUVBL2
Assay Reference Genome
Location

Chr.19:49005379 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04022861_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 10856

Gene Name:

 RuvB like AAA ATPase 2

Gene Aliases:

 CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B

Location:

 Chr.19:48993448-49015995 on Build GRCh38

Assay Gene Location:

 Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RUVBL2 NM_001321190.1 NP_001308119.1
NM_001321191.1 NP_001308120.1
NM_006666.2 NP_006657.1
NR_135578.1
XM_011526330.1 XP_011524632.1
AB024301.1 BAA76708.1
AF124607.1 AAF87087.1
AF151804.1 AAD34041.1
AF155138.1 AAD38073.1
AK027762.1
AK057498.1
AK074542.1 BAC11048.1
AK301344.1
AL136743.1 CAB66677.1
BC000428.2 AAH00428.1
BC004531.2 AAH04531.1
BC008355.1 AAH08355.1
CR533507.1 CAG38538.1
Y18417.1 CAB46270.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833859 Chr.19:48997009 - 49173266 on Build GRCh38 Loss SNAR-G1 NTF4 LIN7B CGB8 LOC101059948 CGB2 LHB SNAR-G2 CGB5 HRC PPFIA3 RUVBL2 SNRNP70 KCNA7 CGB1 CGB3 CGB7 MIR6798 C19orf73 TRPM4
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss NUCB1-AS1 CYTH2 NTF4 MIR4749 LOC101059948 RPL18 LOC100287477 HRC NUCB1 PRRG2 FUT1 SIGLEC11 IRF3 NUP62 CABP5 CD37 SULT2B1 PRMT1 TBC1D17 KDELR1 PLA2G4C RCN3 CGB8 CGB2 RASIP1 BSPH1 SNAR-C1 SNAR-A11 PTH2 SNAR-A2 SNAR-A12 LMTK3 DBP PTOV1-AS1 ZNF114 CGB1 SNAR-A14 SNAR-A8 CGB7 PIH1D1 SNAR-G1 SNAR-B1 SNAR-D VRK3 SNORD32A MIR150 FUZ PPFIA3 LOC105372430 CPT1C CA11 RUVBL2 SLC17A7 TEAD2 PRR12 SNORD35B BCL2L12 MIR6798 SNAR-B2 RPL13A SNAR-A4 LIG1 NOSIP SNAR-A5 CGB5 SLC6A16 DHDH CARD8 SNAR-A9 ELSPBP1 MED25 MIR5088 EMP3 SNORD33 ZNF473 SPACA4 SNORD34 PTOV1 AP2A1 BAX PTOV1-AS2 SIGLEC16 ATF5 TMEM143 SNAR-G2 SNAR-A3 SCAF1 SNAR-A10 MIR6800 FUT2 SNAR-C3 IL4I1 PPP1R15A FTL SNAR-C4 SYNGR4 KCNJ14 RPS11 MIR4751 SNORD35A GYS1 PLEKHA4 LOC105447645 SNAR-A6 GRIN2D MAMSTR LIN7B SNAR-A7 CARD8-AS1 SPHK2 NTN5 LHB BCAT2 TULP2 FLJ26850 SNRNP70 C19orf73 TSKS DKKL1 GFY FLT3LG RRAS LOC101928295 HSD17B14 SNAR-A1 CCDC155 FGF21 ADM5 AKT1S1 MIR4324 IZUMO1 KCNA7 MIR4750 SNAR-C5 C19orf68 PNKP GRWD1 MIR6799 CCDC114 FAM83E ALDH16A1 SNAR-A13 SNAR-C2 FCGRT PLA2G4C-AS1 CGB3 TRPM4 SEC1P
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain GYS1 RUVBL2 LOC101059948 MIR6798 FTL LHB BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss NUCB1-AS1 SNAR-G1 GYS1 NTF4 LIN7B CGB8 LOC101059948 CGB2 LHB SNAR-G2 CGB5 DHDH NUCB1 PPFIA3 RUVBL2 SNRNP70 KCNA7 CGB1 CGB3 CGB7 MIR6798 FTL C19orf73 BAX
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion SNAR-G1 GYS1 NTF4 CGB8 LOC101059948 CGB2 LHB SNAR-G2 CGB5 RUVBL2 SNRNP70 KCNA7 CGB1 CGB3 CGB7 MIR6798 FTL BAX

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