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

Chr.19:49007395 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01090059_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 7 - Intron 7
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-G1 CGB7 CGB5 TRPM4 CGB3 SNAR-G2 MIR6798 LHB PPFIA3 SNRNP70 CGB8 HRC LOC101059948 CGB2 KCNA7 C19orf73 NTF4 CGB1 RUVBL2 LIN7B
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss LIG1 GRWD1 SNAR-A9 RRAS SNAR-G2 MIR6798 TULP2 SNAR-C3 SLC17A7 SULT2B1 NOSIP RPL13A SNAR-A10 CGB2 CCDC114 NTF4 SNAR-C2 FUZ FLT3LG AKT1S1 SNAR-B2 SNAR-A4 PLA2G4C EMP3 GFY HSD17B14 SIGLEC16 VRK3 ZNF473 SNAR-C1 IRF3 CARD8-AS1 IZUMO1 RPL18 C19orf73 FTL PTOV1-AS2 IL4I1 SPACA4 SIGLEC11 SYNGR4 RUVBL2 LOC100287477 SLC6A16 BSPH1 MIR150 MIR4749 SNAR-A8 SCAF1 TRPM4 PLA2G4C-AS1 PIH1D1 SNAR-A3 BCAT2 PRMT1 AP2A1 SNORD33 PPFIA3 LOC101059948 RASIP1 PPP1R15A KCNA7 LOC101928295 NTN5 FUT2 FUT1 GYS1 SNAR-A6 PTOV1 SNORD35B BAX SNORD35A SNAR-A13 LOC105447645 TSKS SNAR-A2 SNAR-A14 MIR4324 MAMSTR PRRG2 MED25 LHB DHDH CGB8 CPT1C FCGRT RCN3 CYTH2 BCL2L12 FLJ26850 CCDC155 CGB1 MIR6800 SNORD34 CGB5 CA11 SNRNP70 SNAR-D MIR4750 ADM5 SNAR-A11 TBC1D17 LMTK3 SNAR-A5 CABP5 SNAR-A12 DBP TMEM143 SNAR-G1 PTH2 CGB7 LOC105372430 PRR12 ATF5 KCNJ14 TEAD2 SNAR-A7 SNAR-C4 RPS11 HRC KDELR1 ALDH16A1 PTOV1-AS1 PLEKHA4 SNAR-B1 NUCB1 MIR5088 MIR4751 MIR6799 CD37 FGF21 CGB3 SNAR-A1 C19orf68 SNORD32A SEC1P GRIN2D SPHK2 FAM83E NUP62 CARD8 ZNF114 LIN7B PNKP DKKL1 SNAR-C5 ELSPBP1 NUCB1-AS1
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain LOC101059948 BAX FTL MIR6798 LHB RUVBL2 GYS1
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss SNAR-G1 CGB7 CGB5 BAX CGB3 SNAR-G2 MIR6798 LHB DHDH PPFIA3 SNRNP70 CGB8 LOC101059948 CGB2 KCNA7 C19orf73 NTF4 FTL CGB1 RUVBL2 LIN7B NUCB1 GYS1 NUCB1-AS1
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion SNAR-G1 CGB7 CGB5 BAX CGB3 SNAR-G2 MIR6798 LHB SNRNP70 CGB8 LOC101059948 CGB2 KCNA7 NTF4 FTL CGB1 RUVBL2 GYS1

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