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

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