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

Chr.19:49011080 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01354186_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:

 Overlaps Exon 11 - Intron 11
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
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 CGB8 CGB3 RUVBL2 LHB SNAR-G2 SNRNP70 LOC101059948 CGB5 SNAR-G1 C19orf73 MIR6798 CGB1 CGB7 TRPM4 LIN7B KCNA7 CGB2 PPFIA3 NTF4 HRC
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss CGB3 LHB SNAR-A1 SNAR-C5 FUT2 SPACA4 MAMSTR CA11 FAM83E PTOV1-AS2 CARD8 TSKS SNAR-C3 PRMT1 SNAR-A12 SNAR-A8 NUP62 PIH1D1 CYTH2 PTOV1-AS1 ZNF473 SNAR-C4 MIR6800 IZUMO1 PTH2 CCDC155 PLA2G4C RCN3 SIGLEC16 FGF21 LIG1 C19orf73 CGB1 SPHK2 BCL2L12 GRIN2D KCNJ14 VRK3 SNAR-C1 SNORD32A FUT1 SNRNP70 FLJ26850 TBC1D17 NUCB1 ATF5 LOC105372430 IRF3 PLEKHA4 SNAR-A9 SNAR-A14 CARD8-AS1 BAX MIR4324 SNAR-B2 SNAR-G2 PLA2G4C-AS1 FCGRT KDELR1 SIGLEC11 PTOV1 DKKL1 DBP TULP2 SNAR-A4 ALDH16A1 SNAR-A5 FLT3LG BCAT2 RPL13A PPP1R15A HSD17B14 SNORD34 SNAR-A7 MIR6799 FUZ LOC100287477 CD37 AP2A1 SEC1P SNORD35A CGB7 LMTK3 FTL LIN7B KCNA7 MIR4749 NTF4 HRC SNAR-A13 CGB8 SNAR-B1 RPL18 SULT2B1 C19orf68 SLC17A7 LOC101059948 PNKP CABP5 MIR6798 SCAF1 IL4I1 BSPH1 MIR5088 NTN5 SNAR-A11 MIR4750 EMP3 PPFIA3 ZNF114 PRRG2 GRWD1 ADM5 PRR12 MIR150 AKT1S1 SNORD35B NOSIP SNAR-A10 SNAR-C2 RUVBL2 GFY MIR4751 DHDH CGB5 RASIP1 SNAR-G1 TMEM143 CCDC114 SNAR-A6 RRAS TEAD2 RPS11 GYS1 SYNGR4 ELSPBP1 SNAR-A3 SNAR-D SNORD33 SLC6A16 LOC101928295 NUCB1-AS1 TRPM4 CPT1C LOC105447645 SNAR-A2 CGB2 MED25
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain BAX MIR6798 RUVBL2 FTL LHB LOC101059948 GYS1
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss BAX CGB8 CGB3 RUVBL2 LHB SNAR-G2 SNRNP70 LOC101059948 DHDH CGB5 NUCB1 SNAR-G1 C19orf73 MIR6798 CGB1 CGB7 FTL NUCB1-AS1 LIN7B KCNA7 CGB2 GYS1 PPFIA3 NTF4
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion BAX CGB8 CGB3 RUVBL2 LHB SNAR-G2 SNRNP70 LOC101059948 CGB5 SNAR-G1 MIR6798 CGB1 CGB7 FTL KCNA7 CGB2 GYS1 NTF4

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