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

Chr.19:49010529 on build GRCh38
Cytoband
19q13.33
Assay ID Hs00633145_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 Exon 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RUVBL2 NM_001321190.1 9 1239 NP_001308119.1
NM_001321191.1 9 1148 NP_001308120.1
NM_006666.2 9 1169 NP_006657.1
NR_135578.1 9 1158
XM_011526330.1 9 1082 XP_011524632.1
AB024301.1 9 718 BAA76708.1
AF124607.1 9 726 AAF87087.1
AF151804.1 9 711 AAD34041.1
AF155138.1 9 711 AAD38073.1
AK027762.1 9 789
AK057498.1 9 1716
AK074542.1 9 719 BAC11048.1
AL136743.1 8 708 CAB66677.1
BC000428.2 9 710 AAH00428.1
BC004531.2 9 718 AAH04531.1
BC008355.1 9 707 AAH08355.1
CR533507.1 8 705 CAG38538.1
Y18417.1 9 710 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 CGB7 HRC CGB5 SNAR-G2 KCNA7 C19orf73 TRPM4 CGB2 LHB SNRNP70 NTF4 MIR6798 CGB8 LOC101059948 LIN7B CGB1 RUVBL2 PPFIA3 CGB3 SNAR-G1
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss NUP62 BSPH1 C19orf68 LIG1 KDELR1 DKKL1 SNAR-D MAMSTR IL4I1 CGB5 BCL2L12 CCDC155 RCN3 SNAR-A5 SLC17A7 SYNGR4 FUZ SULT2B1 PTOV1-AS1 MIR4749 CARD8 CPT1C NOSIP GFY CD37 SNORD33 LIN7B CABP5 PIH1D1 SNORD34 PRR12 PRMT1 MIR4324 SNORD32A MIR5088 TSKS MIR4750 KCNA7 SNORD35B SNAR-A6 DBP FTL LHB ALDH16A1 PNKP RPL18 SNAR-A7 IZUMO1 FAM83E GRWD1 AP2A1 AKT1S1 SNAR-A11 SPACA4 PRRG2 SPHK2 CCDC114 SNAR-C3 TBC1D17 SCAF1 SNAR-A10 LOC105447645 LOC105372430 SNAR-G2 TMEM143 TRPM4 FLT3LG CARD8-AS1 SNRNP70 RASIP1 NTF4 ADM5 SNAR-A13 PTOV1-AS2 SNAR-C4 CA11 SNAR-G1 SNAR-A8 SIGLEC11 RPL13A CYTH2 CGB2 PPFIA3 SLC6A16 FLJ26850 ZNF473 SEC1P TULP2 SNAR-A14 PLA2G4C VRK3 MED25 PTOV1 LOC101928295 FUT1 CGB8 RRAS CGB1 SNAR-B2 RUVBL2 SNAR-A12 SIGLEC16 DHDH NTN5 LOC100287477 GYS1 NUCB1-AS1 SNAR-A4 EMP3 FUT2 PLEKHA4 PTH2 FGF21 CGB3 MIR4751 SNAR-A2 CGB7 NUCB1 PPP1R15A SNORD35A SNAR-A9 MIR6799 ATF5 SNAR-C1 SNAR-A1 SNAR-B1 HSD17B14 BAX SNAR-C2 SNAR-A3 BCAT2 RPS11 TEAD2 SNAR-C5 HRC KCNJ14 PLA2G4C-AS1 C19orf73 FCGRT GRIN2D LMTK3 MIR6798 ZNF114 MIR150 MIR6800 LOC101059948 ELSPBP1 IRF3
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain FTL LHB MIR6798 LOC101059948 BAX GYS1 RUVBL2
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB7 NUCB1 DHDH CGB5 GYS1 SNAR-G2 NUCB1-AS1 KCNA7 C19orf73 CGB2 FTL LHB SNRNP70 NTF4 MIR6798 CGB8 LOC101059948 BAX LIN7B CGB1 RUVBL2 PPFIA3 CGB3 SNAR-G1
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB7 CGB5 GYS1 SNAR-G2 KCNA7 CGB2 FTL LHB SNRNP70 NTF4 MIR6798 CGB8 LOC101059948 BAX CGB1 RUVBL2 CGB3 SNAR-G1

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