TMEM50B Gene
protein-coding GIFtS : 45
GCID: GC21 M034804
transmembrane protein 50B (Previous name: chromosome 21 open reading frame 4 ) (Previous symbol: C21orf4 )
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Aliasesfor TMEM50B gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section This gene clusters with an RNA geneSubcategory (RNA class): lncRNAQuality score for the ORGUL clustered with this gene is 3 Aliases Transmembrane Protein 50B 1 2 C21orf41 2 3 HCV P7-Trans-Regulated Protein 32 3 Chromosome 21 Open Reading Frame 41 HCVP7TP32 HCV P7-Transregulated Protein 32
External Ids: HGNC: 1280 1 Entrez Gene: 757 2 Ensembl: ENSG00000142188 7 UniProtKB: P56557 3 ORGUL members: NONCODE:n411545 n337395
Export aliases for TMEM50B gene to outside databases Previous GC identifers: GC21M033727 GC21M033743 GC21M020291
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Summariesfor TMEM50B gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section --
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Genomic Viewsfor TMEM50B 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_000021.8 NC_018932.1 NT_011512.11 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TMEM50B gene promoter: AhR Nkx2-2 Nkx2-5 CBF-C Arnt CBF-B CBF-A CP1A CBF(2) Other transcription factors Search SABiosciences Chromatin IP Primers for TMEM50B Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMEM50B
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 21q22.11 Ensembl cytogenetic band: 21q22.11 HGNC cytogenetic band: 21q22.1 TMEM50B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 21 GeneLoc Exon Structure
GeneLoc location for GC21M034804: view genomic region
(about GC identifiers )
Start:
34,804,792 bp from pter
End:
34,853,499 bp from pter
Size:
48,708 bases
Orientation:
minus strand
1 alternative location : Chr 21-,PATCHES 34,816,669-34,857,059
ORGUL member locations:Legend (see complete legend)
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Proteinsfor TMEM50B gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: TM50B_HUMAN, P56557 (See
protein sequence )Recommended Name: Transmembrane protein 50B Size : 158 amino acids; 17936 Da
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Secondary accessions : B2R4L4 D3DSF1 O60537 Q5PY47Explore the universe of human proteins at neXtProt for TMEM50B: NX_P56557 TMEM50B Protein expression data from MOPED and PaxDb : --
REFSEQ proteins: NP_006125.2 ENSEMBL proteins: ENSP00000397773 ENSP00000439768 ENSP00000398859 ENSP00000409942 ENSP00000387622 ENSP00000411248 Human Recombinant Protein Products for TMEM50B: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
TMEM50B for ontologies About GeneDecksing TMEM50B Antibody Products: Assay Products for TMEM50B:
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Protein
Domains / Familiesfor TMEM50B gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TMEM50B for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry P56557 ProtoNet protein and cluster: P56557
1 Blocks protein family : IPB007919 Protein of unknown function UPF0220 UniProtKB/Swiss-Prot: TM50B_HUMAN, P56557 Similarity : Belongs to the UPF0220 family
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Functionfor TMEM50B gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section 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 --
TMEM50B for ontologies About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for TMEM50B : 1 MGI phenotypic allele for Tmem50b (no phenotypes)
TMEM50B for phenotypes About GeneDecksing Animal Models: 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 TMEM50B (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM50BOriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM50B (NM_006134 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM50B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM50B
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM50B
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Pathways & Interactionsfor TMEM50B 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 TMEM50B 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:0008150 biological_process
ND --
TMEM50B for ontologies About GeneDecksing
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Drugs & Compoundsfor TMEM50B 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 TMEM50B Search CenterWatch for drugs/clinical trials and news about TMEM50B / TM50B
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Transcriptsfor TMEM50B 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 ,
Sirion Biotech ,
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 TMEM50B gene: NM_006134.6 Unigene Cluster for TMEM50B:
Transmembrane protein 50B Hs.433668 [show with all ESTs ] Unigene Representative Sequence: NR_040016 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000484377 ENST00000420455 (uc002yrs.2 uc010gmb.2 ) ENST00000470682 ENST00000468874 ENST00000542230 ENST00000441128 ENST00000442441 ENST00000474272 ENST00000432504 ENST00000435619 ENST00000459909 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM50B (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM50BOriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM50B (NM_006134 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM50B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM50B
Additional cDNA sequence: AF045606.2 AF086280.1 AK309977.1 AK310701.1 AK311870.1 AL355685.1 AY358634.1 AY820138.1 BC000569.2 DQ286229.1 DQ655932.2 DQ655933.2 DQ656043.2 NR_040016.1
13 DOTS entries : DT.455857 DT.415722
DT.121131398 DT.95274525 DT.100665691 DT.95086970 DT.121131426 DT.75145105 DT.85104623 DT.95274524 DT.100775772 DT.101983537 DT.95165204 24/281 AceView cDNA sequences (see all 281 ):
AI499969 BQ888972 AU122747 BI916178 AI277739 AI521497 BC000569 AA515501 BQ776181 AA115204 Z41281 AL711021 AI090946 AW138034 BM675292 AA938897 AA115462 F19175 BE045450 BM750497 CD622027 BQ773084 BP342830 BP376916 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM50B About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 SP1 :     -   -       -             SP2 :                         SP3 :     -   -                  
ECgene alternative splicing isoforms for TMEM50B
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Expression for TMEM50B 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 TMEM50B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: -- About this image TMEM50B expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
Genevestigator expression for TMEM50B SOURCE GeneReport for Unigene cluster: Hs.433668 SABiosciences Custom PCR Arrays for TMEM50B Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM50BBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TMEM50B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM50B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM50B In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM50B
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Orthologsfor TMEM50B gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for TMEM50B gene from 7/23 species (see all 23 ) About this table
ENSEMBL Gene Tree for TMEM50B (if available)TreeFam Gene Tree for TMEM50B (if available)
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Paralogsfor TMEM50B gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TMEM50B gene TMEM50A 2 2 SIMAP similar genes for TMEM50B using alignment to 5 protein entries: TM50B_HUMAN (see all proteins ):SMP1 TMEM50A
TMEM50B for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for TMEM50B PGOHUM00000234390
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Genomic Variantsfor TMEM50B gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 21 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TMEM50B (34804792 - 34853499 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 10 variations for TMEM50B 10 CNVs : 35967 35964 0542 35962 23640 35966 35969 35968 35965 35963
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM50B
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Disorders
/ Diseasesfor TMEM50B 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
TMEM50B for disorders About GeneDecksing 1 disease for TMEM50B : About MalaCards down syndrome Export disorders for TMEM50B gene to outside databases
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Publicationsfor TMEM50B gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for TMEM50B gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with TMEM50B) Utopia : connect your pdf to the dynamic world of online information
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) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 1 , 2 Clark H.F.... Gray A.M. (2003) Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. (PubMed id 10077530) 1 , 2 Reboul J.... Lutfalla G. (1999) Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PubMed id 17567994) 1 Denoeud F....Reymond A. (2007) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588) 1 Hu Y.H....Janitz M. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614) 1 Simpson J.C.... Wiemann S. (2000)
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External Searches for TMEM50B gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TMEM50B gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing TMEM50B gene
(According to HUGE )
About This Section --
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Specialized Databases showing TMEM50B 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
Name Description
PharmGKB entry for TMEM50B Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for TMEM50B gene: Search GeneIP for patents involving TMEM50B GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TMEM50B 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 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , 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 , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for TMEM50B OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TMEM50B OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM50B OriGene Protein Over-expression Lysate for TMEM50B Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TMEM50B OriGene 3'-UTR Clone for TMEM50B OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM50B OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM50B 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 TMEM50B OriGene Custom Protein Services for TMEM50B OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM50B QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM50B QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMEM50B QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TMEM50B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM50B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM50B
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TMEM50B Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM50B
ThermoFisher Antibodies for TMEM50B
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM50B
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