Genomic Map
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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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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:
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