SIAE Gene
protein-coding GIFtS: 46
GCID: GC11M124505
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sialic acid acetylesterase(Previous name: Ysg2 homolog (mouse) ) (Previous symbol: YSG2)
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Aliases for SIAE gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Sialic Acid Acetylesterase1 2 | | MGC870091 | | YSG21 2 3 | | Ysg2 Homolog (Mouse)1 | | CSE-C1 2 | | CSEC2 | | LSE1 2 | | Cytosolic Sialic Acid 9-O-Acetylesterase Homolog2 | | H-Lse2 3 | | Sialate O-Acetylesterase2 | | EC 3.1.1.533 8 | | Sialic Acid-Specific Acetylesterase II2 | | AIS62 5 | | Sialic Acid-Specific 9-O-Acetylesterase3 |
Export aliases for SIAE gene to outside databasesPrevious GC identifers: GC11M124011 GC11M120448 |
Summaries for SIAE 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 SIAE: This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene areassociated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms,found either in the cytosol or in the lysosome, have been found for this gene.(provided by RefSeq, Feb 2011) UniProtKB/Swiss-Prot: SIAE_HUMAN, Q9HAT2Function: Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminicacid
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Genomic Views for SIAE 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_000011.9 NC_018922.1 NT_033899.8
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SIAE gene promoter: TBP PPAR-gamma1 NF-1 AML1a COMP1 Lmo2 PPAR-gamma2 IRF-1 HNF-4alpha2 HNF-4alpha1 Other transcription factors
Search SABiosciences Chromatin IP Primers for SIAE
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIAE |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q24 Ensembl cytogenetic band: 11q24.2 HGNC cytogenetic band: 11q24SIAE Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M124505: view genomic region
(about GC identifiers)
Start:
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124,503,009 bp from pter |
End:
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124,565,603 bp from pter |
Size:
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62,595 bases |
Orientation:
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minus strand |
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Proteins for SIAE 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: SIAE_HUMAN, Q9HAT2 (See
protein sequence)Recommended Name: Sialate O-acetylesterase precursor Size: 523 amino acids; 58315 Da
Subcellular location: Lysosome (Probable). Secreted
Secondary accessions: B3KPB0 Q8IUT9 Q9HAU7 Q9NT71Alternative splicing: 2 isoforms: Q9HAT2-1 Q9HAT2-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SIAE: NX_Q9HAT2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HAT2 3 DME Specific Peptides for SIAE (Q9HAT2)
SIAE Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001186851.1 NP_733746.1 ENSEMBL proteins: ENSP00000263593 ENSP00000437877 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | | GO:0005764 | lysosome |
IEA | -- |
SIAE for ontologies About GeneDecksing
SIAE Antibody Products: Assay Products for SIAE: |
Protein
Domains / Families for SIAE gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SIAE for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9HAT2ProtoNet protein and cluster: Q9HAT2 |
Function for SIAE 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: SIAE_HUMAN, Q9HAT2Function: Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminicacidCatalytic activity: N-acetyl-O-acetylneuraminate + H(2)O = N-acetylneuraminate + acetateEnzyme Number (IUBMB): EC 3.1.1.531 2
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 SIAE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIAE OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SIAE (NM_170601) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SIAE | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAE  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAE |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001681 | sialate O-acetylesterase activity |
IEA | -- | | GO:0004091 | carboxylesterase activity |
IEA | -- |
SIAE for ontologies About GeneDecksing
Animal Models: Mouse knock-out Siaetm1.2Avrk for SIAE 5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Siae):
SIAE for phenotypes About GeneDecksing
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Pathways & Interactions for SIAE 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 SIAE
|
Drugs & Compounds for SIAE 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 SIAE
3 HMDB Compounds for SIAE About this table Search CenterWatch for drugs/clinical trials and news about SIAE 
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Transcripts for SIAE 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 SIAE gene (3 alternative transcripts): NM_001199922.1 NM_170601.4 NM_018978.1 Unigene Cluster for SIAE: Sialic acid acetylesterase Hs.10056 [show with all ESTs]Unigene Representative Sequence: NM_0011999225 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000263593(uc001qan.3 uc021qru.1) ENST00000533613 ENST00000436137(uc001qao.2) ENST00000525730 ENST00000545756
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIAE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIAE OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SIAE (NM_170601) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SIAE | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAE  |
Additional cDNA sequence: AF300796.1 AF303378.1 AK056093.1 AK092224.1 AL137496.1 BC022456.1 BC068450.1 5 DOTS entries: DT.95265897 DT.95260668 DT.95363553 DT.97765290 DT.40122733 24/161 AceView cDNA sequences (see all 161): AA480369 AA934509 T36167 AK092224 AA284488 AA846421 BC068450 AI278795 AI719065 AI278287 AA805065 AF303378 AK056093 AI056195 AA782685 BQ019261 T49454 AA213991 NM_170601 AA910676 AA772356 AA639769 AA694474 BX507522 GeneLoc Exon Structure
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Expression for SIAE 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
| SIAE expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACAAGCATAT
About this image See SIAE Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SIAE
SOURCE GeneReport for Unigene cluster: Hs.10056 UniProtKB/Swiss-Prot: SIAE_HUMAN, Q9HAT2Tissue specificity: Widely expressed with high expression in the testis, prostate, and colon SABiosciences Custom PCR Arrays for SIAE
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIAE Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIAE | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIAE | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIAE | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAE |
Orthologs for SIAE 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 SIAE gene from 4/16 species (see all 16) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Siae1 , 5 |
sialic acid acetylesterase1, 5 |
82.43(n)1 80.16(a)1 |
  |
9 (20.79 cM)5 226191 NM_011734.31 NP_035864.21 376138475 |
lizard (Anolis carolinensis) |
Reptilia |
SIAE6 |
-- |
55(a) |
1 ↔ 1 |
GL343322.1(162558-174323) |
African clawed frog (Xenopus laevis) |
Amphibia |
MGC686882 |
hypothetical protein MGC68688 |
73.05(n) |
  |
BC059983.1 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc564542 |
similar to yolk sac gene 2 |
76.4(n) |
  |
393259 BC049448.1 |
ENSEMBL Gene Tree for SIAE (if available) TreeFam Gene Tree for SIAE (if available)  |
Paralogs for SIAE gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for SIAE 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 11 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SIAE (124503009 - 124565603 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for SIAE 2 CNVs: 86063 75833 Human Gene Mutation Database (HGMD): SIAE
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIAE |
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Disorders
/ Diseases for SIAE 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
|
SIAE for disorders About GeneDecksing
OMIM gene information: 610079 OMIM disorders: 613551 UniProtKB/Swiss-Prot: SIAE_HUMAN, Q9HAT2
Defects in SIAE are a cause of autoimmune disease type 6 (AIS6) [MIM:613551]. Individuals manifestingsusceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis,multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohndisease 13 diseases for SIAE: About MalaCardsautoimmune disease 6 type 1 diabetes mellitus systemic lupus erythematosus lupus erythematosus diabetes mellitus ulcerative colitis sjogren's syndrome graves' disease rheumatoid arthritis crohn's disease arthritis influenza prostatitis Human Genome Epidemiology (HuGE) Navigator: SIAE (4 documents) Export disorders for SIAE gene to outside databases
|
Publications for SIAE 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 SIAE gene, integrated from 9 sources (see all 18): (articles sorted by number of sources associating them with SIAE) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Functionally defective germline variants of sialic ac id acetylesterase in autoimmunity. (PubMed id 20555325)1, 2 Surolia I....Pillai S. (2010)
- 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)
- A gene encoding sialic-acid-specific 9-O-acetylesterase found in human adult testis. (PubMed id 15292578)1, 2 Zhu H....Sha J.H. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Lysosomal and cytosolic sialic acid 9-O-acetylesterase activities can Be encoded by one gene via differential usage of a signal peptide-encoding exon at the N terminus. (PubMed id 10464298)1, 3 Takematsu H....Varki A. (1999)
- Regulation of O-acetylation of sialic acids by sialate -O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia. (PubMed id 21803834)1 Mandal C....Mandal C. (2012)
- Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. (PubMed id 22257840)1 Hirschfield G.M....Siminovitch K.A. (2012)
- The role of functionally defective rare germline varia nts of sialic acid acetylesterase in autoimmune Addison's disease. (PubMed id 23011869)1 Gan E.H....Pearce S.H. (2012)
- Transcriptional profiling of human placentas from preg nancies complicated by preeclampsia reveals disregulation of sialic acid acetyle sterase and immune signalling pathways. (PubMed id 21183218)1 Tsai S....Piedrahita J.A. (2011)
- Functionally defective germline variant of sialic aci d acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. (PubMed id 21615338)1 SzymaA8ski K....PA8oski R. (2011)
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External Searches for SIAE gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing SIAE gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SIAE gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SIAE 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 SIAE | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SIAE gene: Search GeneIP for patents involving SIAE
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SIAE 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
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 | |
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variant library, vector shuttling | | OriGene Custom Antibody Services for SIAE | | OriGene Custom Protein Services for SIAE | | OriGene Custom Immunoassay Development | | |
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 |  |  |  | |
| | | Search Tocris compounds for SIAE |
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 | | SIAE Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAE |
|  |  |  | | | Search ThermoFisher Antibodies for SIAE |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAE |
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