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

Chr.19:49006200 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04030816_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 CGB3 C19orf73 NTF4 LOC101059948 HRC LIN7B LHB PPFIA3 CGB1 SNAR-G2 TRPM4 CGB7 KCNA7 CGB8 SNRNP70 CGB2 RUVBL2 CGB5 SNAR-G1 MIR6798
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss VRK3 NTF4 NUCB1 LOC101059948 RASIP1 SNAR-G2 FTL HSD17B14 SNAR-D PTOV1-AS1 TBC1D17 MED25 FUT1 TEAD2 SNORD32A CABP5 MIR150 FGF21 SPACA4 LOC105372430 SNAR-A12 RPL18 SIGLEC16 CGB1 C19orf68 NTN5 IZUMO1 TRPM4 KDELR1 RPS11 RPL13A MIR4324 PNKP BAX SNORD33 LOC105447645 ADM5 SNAR-A7 PIH1D1 SYNGR4 SNAR-A4 CD37 HRC LIN7B MIR6799 CA11 SNAR-A2 SEC1P CCDC114 FAM83E PLEKHA4 SNAR-C5 DBP SNAR-A6 IL4I1 SNAR-A1 SNAR-A11 SCAF1 GFY PPP1R15A CGB7 IRF3 RRAS TMEM143 CPT1C PLA2G4C CGB8 SNAR-B1 SULT2B1 MIR4751 ZNF114 RCN3 SNAR-C2 SLC17A7 GRIN2D C19orf73 SNAR-A8 MIR6800 LHB FUZ NUCB1-AS1 KCNJ14 FUT2 FLT3LG SNAR-C3 AP2A1 SNRNP70 LMTK3 SNAR-C4 EMP3 RUVBL2 CCDC155 SNAR-G1 MIR4749 CYTH2 SNAR-A3 ELSPBP1 SPHK2 SLC6A16 SNAR-C1 PLA2G4C-AS1 PPFIA3 CARD8-AS1 PRR12 KCNA7 MAMSTR ZNF473 SNORD35A TULP2 CGB2 SNORD34 FLJ26850 LIG1 MIR6798 CGB3 TSKS MIR4750 PTH2 PRRG2 DKKL1 NOSIP LOC100287477 SNAR-A9 PTOV1-AS2 FCGRT ATF5 SNORD35B CGB5 SIGLEC11 SNAR-A13 PTOV1 DHDH SNAR-A10 BCAT2 GYS1 AKT1S1 SNAR-A5 SNAR-B2 SNAR-A14 BCL2L12 GRWD1 CARD8 MIR5088 NUP62 ALDH16A1 BSPH1 PRMT1 LOC101928295
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain BAX GYS1 LOC101059948 LHB FTL RUVBL2 MIR6798
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss DHDH CGB3 GYS1 C19orf73 NTF4 NUCB1 LOC101059948 LIN7B LHB PPFIA3 CGB1 SNAR-G2 FTL NUCB1-AS1 CGB7 KCNA7 CGB8 BAX SNRNP70 CGB2 RUVBL2 CGB5 SNAR-G1 MIR6798
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB3 GYS1 NTF4 LOC101059948 LHB CGB1 SNAR-G2 FTL CGB7 KCNA7 CGB8 BAX SNRNP70 CGB2 RUVBL2 CGB5 SNAR-G1 MIR6798

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