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

Chr.19:49002937 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04011395_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 3
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 CGB5 CGB2 C19orf73 TRPM4 SNAR-G1 HRC CGB7 KCNA7 LHB SNAR-G2 LOC101059948 MIR6798 LIN7B RUVBL2 CGB1 PPFIA3 CGB3 CGB8 SNRNP70 NTF4
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SNAR-B1 ALDH16A1 IL4I1 CGB2 ATF5 EMP3 FAM83E BAX PTOV1-AS2 HRC SNAR-A11 CABP5 CYTH2 MIR150 PRRG2 ZNF473 GRIN2D KCNJ14 PPFIA3 SLC6A16 TULP2 NUCB1 SNAR-A13 RPL18 MIR6800 LOC101928295 SNORD35A CGB7 SNORD35B PTH2 LOC101059948 VRK3 RUVBL2 SIGLEC11 BCL2L12 NOSIP CGB8 ELSPBP1 SCAF1 SNAR-A10 CARD8-AS1 MED25 FCGRT BCAT2 LHB PNKP LOC105372430 ADM5 FLJ26850 CPT1C C19orf68 IRF3 LIN7B SNORD32A FTL LOC100287477 SNAR-A7 PRR12 FGF21 PIH1D1 DHDH SNAR-G1 CCDC155 MIR4324 MIR6799 DBP NUCB1-AS1 MIR4751 SNAR-A2 PLEKHA4 MIR5088 SNAR-A3 FUZ DKKL1 SNAR-A9 SPHK2 SIGLEC16 SNAR-C5 AKT1S1 LIG1 LOC105447645 SNAR-C4 FUT1 SNAR-A6 SNAR-A8 SNAR-A1 GYS1 GRWD1 AP2A1 SNAR-A4 FUT2 CGB5 SNAR-A12 CARD8 IZUMO1 TBC1D17 PTOV1-AS1 KDELR1 CA11 LMTK3 PPP1R15A MIR6798 RRAS SNAR-C2 SNAR-D RPS11 NTF4 MIR4750 RPL13A PRMT1 SNAR-A14 GFY SNAR-B2 SLC17A7 TEAD2 FLT3LG SNAR-G2 TSKS CCDC114 SULT2B1 SPACA4 NUP62 PLA2G4C-AS1 RASIP1 SEC1P ZNF114 RCN3 SNAR-C1 C19orf73 CD37 TRPM4 PLA2G4C SNORD34 BSPH1 PTOV1 SNAR-A5 MIR4749 KCNA7 SNAR-C3 NTN5 MAMSTR SYNGR4 CGB1 TMEM143 HSD17B14 CGB3 SNRNP70 SNORD33
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain FTL LHB GYS1 LOC101059948 MIR6798 RUVBL2 BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss CGB5 FTL NUCB1 CGB2 C19orf73 DHDH BAX SNAR-G1 CGB7 KCNA7 LHB SNAR-G2 GYS1 LOC101059948 MIR6798 NUCB1-AS1 LIN7B RUVBL2 CGB1 PPFIA3 CGB3 CGB8 SNRNP70 NTF4
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion CGB5 FTL CGB2 BAX SNAR-G1 CGB7 KCNA7 LHB SNAR-G2 GYS1 LOC101059948 MIR6798 RUVBL2 CGB1 CGB3 CGB8 SNRNP70 NTF4

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More Information


Additional Information:

For this assay, SNP(s) [rs111856338] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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