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

Chr.19:48998098 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04028830_cn
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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
nsv833859 Chr.19:48997009 - 49173266 on Build GRCh38 Loss NTF4 MIR6798 LIN7B CGB8 CGB7 PPFIA3 C19orf73 CGB1 LOC101059948 KCNA7 CGB3 TRPM4 SNAR-G1 HRC SNAR-G2 CGB5 LHB CGB2 SNRNP70 RUVBL2
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SNAR-C5 TMEM143 SNAR-A7 FLJ26850 RPS11 SNAR-A1 CARD8 CGB7 ATF5 C19orf73 NUCB1 IZUMO1 AKT1S1 GYS1 FUT2 HRC SNAR-A12 SIGLEC16 NTN5 C19orf68 NOSIP SNAR-D ZNF473 MIR6799 LIG1 AP2A1 MIR6800 SULT2B1 DBP SNAR-G2 SNAR-A2 PIH1D1 SNAR-A8 SNRNP70 TULP2 GRWD1 PRRG2 MIR6798 PPP1R15A BAX SYNGR4 SNAR-A6 GRIN2D SNAR-A5 CGB1 LMTK3 PNKP SNAR-A13 SNORD32A FAM83E KCNA7 MED25 SNAR-C3 BSPH1 BCAT2 MAMSTR CGB5 MIR5088 TEAD2 CPT1C RPL18 GFY DKKL1 FUT1 PPFIA3 CABP5 SNAR-C2 TSKS HSD17B14 CGB2 SPACA4 SNORD33 SNORD35A SNAR-B2 PTOV1 MIR4751 SNAR-A14 SIGLEC11 SNAR-C4 SNAR-A9 RPL13A LOC100287477 CGB3 PTH2 MIR4324 SLC17A7 CD37 CARD8-AS1 SNAR-A4 ADM5 LOC105447645 RUVBL2 NUP62 TBC1D17 RCN3 MIR150 MIR4750 CYTH2 KDELR1 PTOV1-AS2 CCDC114 SLC6A16 PLA2G4C EMP3 PRMT1 SEC1P PTOV1-AS1 IRF3 MIR4749 SNAR-C1 TRPM4 FLT3LG SCAF1 NTF4 ALDH16A1 ZNF114 SNORD34 PLEKHA4 LIN7B FGF21 FTL BCL2L12 PLA2G4C-AS1 LOC101059948 NUCB1-AS1 SNAR-A3 SNAR-A10 FUZ DHDH ELSPBP1 IL4I1 LOC105372430 VRK3 LOC101928295 SNAR-B1 RRAS RASIP1 SNAR-A11 CGB8 KCNJ14 PRR12 CCDC155 FCGRT SNORD35B SNAR-G1 SPHK2 LHB CA11
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain LOC101059948 MIR6798 GYS1 BAX FTL LHB RUVBL2
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss NTF4 MIR6798 LIN7B BAX CGB8 FTL CGB7 PPFIA3 C19orf73 CGB1 NUCB1 LOC101059948 NUCB1-AS1 KCNA7 CGB3 DHDH GYS1 SNAR-G1 SNAR-G2 CGB5 LHB CGB2 SNRNP70 RUVBL2
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion NTF4 MIR6798 BAX CGB8 FTL CGB7 CGB1 LOC101059948 KCNA7 CGB3 GYS1 SNAR-G1 SNAR-G2 CGB5 LHB CGB2 SNRNP70 RUVBL2

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More Information


Additional Information:

For this assay, SNP(s) [rs115986262,rs79391930] 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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