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

Chr.19:48999340 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01543214_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 Intron 2 - Intron 3
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-G2 CGB2 SNRNP70 KCNA7 HRC LOC101059948 CGB8 PPFIA3 CGB7 CGB1 CGB5 TRPM4 MIR6798 SNAR-G1 LHB NTF4 RUVBL2 CGB3 LIN7B C19orf73
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SEC1P SPHK2 NOSIP SNAR-C4 SNAR-A12 SNAR-B2 CGB5 TRPM4 NUCB1 SCAF1 NTF4 SNAR-C1 ELSPBP1 MIR4750 GRWD1 IZUMO1 CGB2 SNORD32A NUCB1-AS1 TSKS SNORD35B SNAR-A8 SNAR-D SNAR-A9 SNAR-C2 GFY CA11 FCGRT PRRG2 FLT3LG EMP3 MIR4324 CYTH2 SLC17A7 SNAR-A7 SYNGR4 SNORD33 FLJ26850 FGF21 SNAR-C5 SNRNP70 LOC101928295 VRK3 PPP1R15A KDELR1 AP2A1 CGB7 TMEM143 GRIN2D SNAR-A11 FAM83E SULT2B1 SNAR-A10 BSPH1 AKT1S1 MIR4749 DKKL1 LOC100287477 SNAR-A5 RPL13A PPFIA3 BCAT2 IRF3 SNAR-A13 RUVBL2 SNAR-B1 LIN7B RPL18 FTL CABP5 SNAR-A14 PNKP KCNA7 SNAR-A3 RCN3 LIG1 CD37 SIGLEC16 PRR12 RASIP1 SNAR-G1 PTOV1-AS1 SPACA4 PIH1D1 MIR6799 SNAR-A1 CPT1C HSD17B14 DBP SNAR-A6 ALDH16A1 PTH2 SNAR-A4 SIGLEC11 PTOV1 PTOV1-AS2 ZNF114 SLC6A16 SNAR-A2 ADM5 CCDC114 CARD8 RPS11 LOC105372430 ATF5 TEAD2 NTN5 IL4I1 CCDC155 TBC1D17 DHDH HRC FUT2 MAMSTR SNAR-C3 CGB1 GYS1 BAX PRMT1 MIR4751 MIR6798 FUZ LHB MIR6800 CARD8-AS1 MIR5088 PLA2G4C RRAS MIR150 C19orf68 SNAR-G2 PLEKHA4 BCL2L12 LOC101059948 CGB8 SNORD35A LOC105447645 FUT1 SNORD34 MED25 ZNF473 TULP2 KCNJ14 CGB3 NUP62 PLA2G4C-AS1 LMTK3 C19orf73
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain MIR6798 LHB LOC101059948 RUVBL2 GYS1 FTL BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss SNAR-G2 CGB2 DHDH NUCB1-AS1 SNRNP70 KCNA7 LOC101059948 CGB8 PPFIA3 CGB7 CGB1 GYS1 BAX CGB5 NUCB1 MIR6798 SNAR-G1 LHB NTF4 RUVBL2 CGB3 LIN7B C19orf73 FTL
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion SNAR-G2 CGB2 SNRNP70 KCNA7 LOC101059948 CGB8 CGB7 CGB1 GYS1 BAX CGB5 MIR6798 SNAR-G1 LHB NTF4 RUVBL2 CGB3 FTL

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