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

Chr.19:48995225 on build GRCh38
Cytoband
19q13.33
Assay ID Hs07134011_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Intron 2
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
BC000428.2 AAH00428.1
BC004531.2 AAH04531.1
BC008355.1 AAH08355.1
Y18417.1 CAB46270.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss DHDH PIH1D1 SNAR-A1 PRMT1 LOC101928295 PTOV1-AS1 GYS1 TULP2 SNORD34 SNAR-A5 TSKS SNAR-A13 SNAR-B2 PPP1R15A SNAR-A4 CGB3 FUT1 LMTK3 SNAR-C4 CYTH2 SNAR-A10 SYNGR4 LOC105372430 FLJ26850 ELSPBP1 KDELR1 SNORD35B SNORD35A SNAR-C1 FCGRT LOC100287477 SNAR-A14 SNAR-C2 RRAS SNAR-B1 LOC105447645 SIGLEC16 ATF5 ZNF114 CGB8 CABP5 FAM83E SNAR-D PLA2G4C-AS1 NUP62 BCAT2 SNAR-A2 VRK3 FTL NUCB1-AS1 NTF4 SEC1P BAX GRWD1 IL4I1 NUCB1 TMEM143 SNAR-C5 HRC SNAR-A6 LIN7B BCL2L12 PLEKHA4 DKKL1 NOSIP CD37 SNORD33 TRPM4 TEAD2 SNAR-A12 CARD8 FUZ SNRNP70 C19orf68 IRF3 FGF21 CARD8-AS1 CCDC155 SLC17A7 EMP3 PRR12 ZNF473 PRRG2 GRIN2D RASIP1 PPFIA3 MIR6798 AP2A1 SULT2B1 DBP MED25 FLT3LG NTN5 RUVBL2 MIR6800 SIGLEC11 SNAR-A9 CGB5 TBC1D17 LHB ADM5 SNAR-C3 KCNA7 SNAR-G2 HSD17B14 MIR4324 SCAF1 SNORD32A RPL13A MIR5088 FUT2 IZUMO1 BSPH1 C19orf73 SLC6A16 PTOV1 KCNJ14 ALDH16A1 CGB2 MIR4750 SNAR-A7 SPHK2 RPL18 AKT1S1 CCDC114 MIR4749 CA11 LOC101059948 RPS11 CGB1 RCN3 PLA2G4C PNKP GFY CGB7 PTH2 MIR4751 SNAR-G1 MIR150 MAMSTR SNAR-A8 PTOV1-AS2 SNAR-A11 SNAR-A3 LIG1 CPT1C SPACA4 MIR6799
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain FTL RUVBL2 BAX GYS1 MIR6798 LOC101059948 LHB
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss DHDH CGB1 CGB7 LIN7B GYS1 SNAR-G1 CGB8 C19orf73 PPFIA3 MIR6798 KCNA7 SNAR-G2 FTL CGB2 NUCB1-AS1 NTF4 RUVBL2 BAX SNRNP70 CGB3 CGB5 LOC101059948 NUCB1 LHB
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB1 CGB7 GYS1 SNAR-G1 CGB8 MIR6798 KCNA7 SNAR-G2 FTL CGB2 NTF4 RUVBL2 BAX SNRNP70 CGB3 CGB5 LOC101059948 LHB

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