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

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