MRPL40 Gene
protein-coding GIFtS: 51
GCID: GC22P019419
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mitochondrial ribosomal protein L40(Previous name: nuclear localization signal deleted in velocardiofacial...)
(Previous symbol: NLVCF)
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Aliases
for MRPL40 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrial Ribosomal Protein L401 2 | | L40mt2 3 | | NLVCF1 2 3 5 | | MRP-L402 3 | | MRP-L221 2 | | URIM2 3 | | Nuclear Localization Signal Deleted In Velocardiofacial Syndrome1 2 | | 39S Ribosomal Protein L40, Mitochondrial2 | | Nuclear Localization Signal-Containing Protein Deleted In VelocardiofacialSyndrome2 3 | | MRPL222 | | Up-Regulated In Metastasis2 3 | | Nuclear Localization Signal Containing Protein Deleted In VelocardiofacialSyndrome2 |
Export aliases for MRPL40 gene to outside databasesPrevious GC identifers: GC22U990205 GC22P016361 GC22P017794 GC22P017793 GC22P003040 |
Summaries
for MRPL40 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MRPL40:
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within themitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. Theyhave an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed.Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA.Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes inbiochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. (providedby RefSeq, Jul 2008)
Gene Wiki entry for MRPL40
|
Genomic Views
for MRPL40 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011519.10
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MRPL40 gene promoter:
TBP USF1 MAZR AML1a USF2 USF-1:USF-2 E47 AREB6 Ik-2 USF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MRPL40
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL40 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q11.2 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.2MRPL40 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P019419: view genomic region
(about GC identifiers)
Start:
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19,419,425 bp from pter |
End:
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19,423,598 bp from pter |
Size:
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4,174 bases |
Orientation:
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plus strand |
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Proteins
for MRPL40 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RM40_HUMAN, Q9NQ50 (See
protein sequence)Recommended Name: 39S ribosomal protein L40, mitochondrial precursor Size: 206 amino acids; 24490 Da
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: B3KVZ7 O95134Explore the universe of human proteins at neXtProt for MRPL40: NX_Q9NQ50
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NQ50
MRPL40 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003767.2
ENSEMBL proteins: ENSP00000333401 ENSP00000411864
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MRPL40 for ontologies About GeneDecksing
MRPL40 Antibody Products:
Assay Products for MRPL40: |
Protein
Domains /
Families
for MRPL40 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MRPL40 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NQ50ProtoNet protein and cluster: Q9NQ50 |
Function
for MRPL40 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: MRPL40 (NM_003776) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRPL40 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL40 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL40 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
MRPL40 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MRPL40:
|
Pathways & Interactions
for MRPL40 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL40
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/235 Interacting proteins for MRPL40 (Q9NQ502, 3 ENSP000003334014) via UniProtKB, MINT, STRING, and/or I2D (see all 235)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0009653 | anatomical structure morphogenesis |
TAS | 9790763 |
MRPL40 for ontologies About GeneDecksing
|
Drugs & Compounds
for MRPL40 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MRPL40
Search CenterWatch for drugs/clinical trials and news about MRPL40 / RM40
|
Transcripts
for MRPL40 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MRPL40 gene: NM_003776.2 Unigene Cluster for MRPL40: Mitochondrial ribosomal protein L40 Hs.431307 [show with all ESTs]Unigene Representative Sequence: AK1237683 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000333130(uc002zpg.3) ENST00000443660 ENST00000471259
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MRPL40 (NM_003776) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRPL40 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL40 |
Additional cDNA sequence: AF034091.1 AJ295637.1 AK123768.1 BC009707.1 CR456532.1 10 DOTS entries: DT.97825739 DT.453360 DT.100000717 DT.92426221 DT.100786543 DT.120652532 DT.100786542 DT.95169494 DT.120652450 DT.95169495 24/208 AceView cDNA sequences (see all 208): CA430729 AA309003 BQ631141 BQ049913 AA631764 AI760300 AA854065 BF914632 AA039808 C21258 AI571175 CD674820 AA877340 BQ676854 CR597074 AA775857 AA719827 AA307896 AA039735 BU684384 AI608976 AA904316 AW007551 AA876350
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL40 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d |
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| SP1: | | | | | - | | | | | | | | - | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for MRPL40
|
Expression
for MRPL40 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MRPL40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTTAATAA
About this image
See MRPL40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRPL40
SOURCE GeneReport for Unigene cluster: Hs.431307
UniProtKB/Swiss-Prot: RM40_HUMAN, Q9NQ50Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for MRPL40
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRPL40
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MRPL40 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL40 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL40 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL40 |
Orthologs
for MRPL40 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for MRPL40 gene from 6/17 species (see all 17) About this table
ENSEMBL Gene Tree for MRPL40 (if available)
TreeFam Gene Tree for MRPL40 (if available) |
Paralogs
for MRPL40 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MRPL40 gene
MRPL40 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MRPL40
PGOHUM00000239837
|
Genomic Variants
for MRPL40 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MRPL40 (19419425 - 19423598 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MRPL40
2 CNVs: 8901 31071 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL40 |
|
Disorders
/ Diseases
for MRPL40 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MRPL40 for disorders About GeneDecksing
OMIM gene information: 605089
OMIM disorders: --
2  diseases for MRPL40: About MalaCardsvelocardiofacial syndrome digeorge syndrome
1 disease from the University of Copenhagen DISEASES database for MRPL40:DiGeorge syndrome Human Genome Epidemiology (HuGE) Navigator: MRPL40 (1 document)
Export disorders for MRPL40 gene to outside databases
|
Publications
for MRPL40 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MRPL40 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MRPL40) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. (PubMed id 9790763)1, 2, 3 Funke B....Morrow B. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 3 Kenmochi N....Tanaka T. (2001)
- Identification of URIM, a novel gene up-regulated in metastasis. (PubMed id 10226592)1, 2 Hildebrandt T.... Zendman A.J.W. (1999)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
|
External Searches for MRPL40 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MRPL40 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MRPL40 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MRPL40 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for MRPL40 gene:
Search GeneIP for patents involving MRPL40
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MRPL40 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MRPL40 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MRPL40 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRPL40 | | | OriGene Protein Over-expression Lysate for MRPL40 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MRPL40 | | OriGene 3'-UTR Clone for MRPL40 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL40 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MRPL40 | | OriGene Custom Protein Services for MRPL40 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MRPL40 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL40 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL40 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MRPL40 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL40 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL40 |
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 | | | MRPL40 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL40 |
|  |  |  | | | | Search ThermoFisher Antibodies for MRPL40 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL40 |
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