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

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