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

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