MIS18A Gene
protein-coding GIFtS: 46
GCID: GC21M033641
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MIS18 kinetochore protein homolog A (S. pombe)(Previous names: chromosome 21 open reading frame 46, chromosome 21 open...)
(Previous symbols: C21orf46, C21orf45)
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Aliases
for MIS18A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| MIS18 Kinetochore Protein Homolog A (S. Pombe)1 2 | | FAPP1-Associated Protein 12 3 | | C21orf451 2 3 | | Chromosome 21 Open Reading Frame 451 | | C21orf461 2 3 | | Chromosome 21 Open Reading Frame 461 | | FASP11 2 3 | | MIS18alpha2 | | B281 2 | | Protein Mis18-Alpha2 | | HMis18alpha1 | | |
Export aliases for MIS18A gene to outside databases |
Summaries
for MIS18A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis
Gene Wiki entry for MIS18A (C21orf45)
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Genomic Views
for MIS18A 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:
 Search SABiosciences Regulatory transcription factor binding sites for MIS18A
Other transcription factors
Search SABiosciences Chromatin IP Primers for MIS18A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIS18A |
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: 21q22.11MIS18A 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 GC21M033641: view genomic region
(about GC identifiers)
Start:
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33,640,530 bp from pter |
End:
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33,651,380 bp from pter |
Size:
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10,851 bases |
Orientation:
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minus strand |
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Proteins
for MIS18A 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: MS18A_HUMAN, Q9NYP9 (See
protein sequence)Recommended Name: Protein Mis18-alpha Size: 233 amino acids; 25863 Da
Subunit: Homodimer, and heterodimer with MIS18B. Identified in a complex containing MIS18A, MIS18B, MIS18BP1, RBBP7 andRBBP4
Subcellular location: Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphasecells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associatedwith chromatin
Secondary accessions: B2R562 Q542Z0Explore the universe of human proteins at neXtProt for MIS18A: NX_Q9NYP9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NYP9
MIS18A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_061817.1
ENSEMBL proteins: ENSP00000290130 Reactome Protein details: Q9NYP9
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
MIS18A for ontologies About GeneDecksing
MIS18A Antibody Products:
Assay Products for MIS18A: |
Protein
Domains /
Families
for MIS18A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9NYP9 UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9Similarity: Belongs to the mis18 family |
Function
for MIS18A 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
|
Function Summary:
UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis
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 MIS18A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MIS18A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MIS18A (NM_018944) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MIS18A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A |
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 | -- |
MIS18A for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MIS18A:
Animal Models:
Mouse knock-out Mis18atm1.2Kiik for MIS18A
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mis18a):
MIS18A for phenotypes About GeneDecksing
|
Pathways & Interactions
for MIS18A 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
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Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | RSF Complex Binds the Centromere. | | | 2 | Cell Cycle | | | 3 | Meiotic Synapsis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for MIS18A (see all 6)
MIS18A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MIS18A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/26 Interacting proteins for MIS18A (Q9NYP93 ENSP000002901304) via UniProtKB, MINT, STRING, and/or I2D (see all 26)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
MIS18A for ontologies About GeneDecksing
|
Drugs & Compounds
for MIS18A 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 MIS18A
Search CenterWatch for drugs/clinical trials and news about MIS18A / MS18A
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Transcripts
for MIS18A 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 MIS18A gene: NM_018944.2 Unigene Cluster for MIS18A: MIS18 kinetochore protein homolog A (S. pombe) Hs.190518 [show with all ESTs]Unigene Representative Sequence: NM_0189442 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000290130(uc002ypi.3) ENST00000486363
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MIS18A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MIS18A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MIS18A (NM_018944) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MIS18A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A |
Additional cDNA sequence: AF231921.1 AF387845.1 AK075281.1 AK312073.1 BC042917.1 5 DOTS entries: DT.442708 DT.95270777 DT.121138506 DT.95270775 DT.442707 24/96 AceView cDNA sequences (see all 96): BX119805 AF387845 CA418285 CK902536 AA709257 BC042917 BM758045 BF109083 AF231921 BI226071 BE275345 BQ051963 BF059324 BQ014318 BE796164 BM749264 BU623181 BQ022599 AI652030 NM_018944 AA807728 BF979535 AA977827 AA613716
GeneLoc Exon Structure
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Expression
for MIS18A 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
| MIS18A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATCTTCTC
About this image
See MIS18A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MIS18A
SOURCE GeneReport for Unigene cluster: Hs.190518
UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9Tissue specificity: Detected in testis
SABiosciences Custom PCR Arrays for MIS18A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MIS18A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MIS18A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIS18A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIS18A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A |
Orthologs
for MIS18A 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 chordates.
Orthologs for MIS18A gene from 4/12 species (see all 12) About this table
ENSEMBL Gene Tree for MIS18A (if available)
TreeFam Gene Tree for MIS18A (if available) |
Paralogs
for MIS18A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MIS18A 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 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MIS18A (33640530 - 33651380 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MIS18A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MIS18A |
|
Disorders
/ Diseases
for MIS18A 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
|
MIS18A for disorders About GeneDecksing
2  diseases for MIS18A: About MalaCardsdown syndrome schizophrenia
Export disorders for MIS18A gene to outside databases
|
Publications
for MIS18A 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 MIS18A gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with MIS18A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PubMed id 17199038)1, 2, 3 Fujita Y....Yanagida M. (2007)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
- 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)
- Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PubMed id 10773462)1, 2 Slavov D.... Gardiner K. (2000)
- PP5644 interacts with phosphatidylinositol-4-phosphate adaptor protein-1 associated protein-1. (PubMed id 15881666)1, 9 Ye X.-X.... Gu J.-R. (2005)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- 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)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
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External Searches for MIS18A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing MIS18A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MIS18A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MIS18A 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 MIS18A | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for MIS18A gene:
Search GeneIP for patents involving MIS18A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MIS18A 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 MIS18A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MIS18A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MIS18A | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MIS18A | | OriGene 3'-UTR Clone for MIS18A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MIS18A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MIS18A | | | 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 MIS18A | | OriGene Custom Protein Services for MIS18A | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MIS18A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MIS18A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIS18A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MIS18A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIS18A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIS18A |
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| | | | Search Tocris compounds for MIS18A |
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 | | | MIS18A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A |
|  |  |  | | | | Search ThermoFisher Antibodies for MIS18A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A |
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