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

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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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