SLC9A4 Gene
protein-coding GIFtS: 51
GCID: GC02P103089
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solute carrier family 9, subfamily A (NHE4, cation proton...(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
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Aliases for SLC9A4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Solute Carrier Family 9, Subfamily A (NHE4, Cation Proton Antiporter 4),Member 41 2 | | Na(+)/H(+) Exchanger 42 3 | | NHE41 2 3 5 | | Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 41 | | Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 41 2 | | Sodium/Hydrogen Exchanger 42 | | Solute Carrier Family 9 Member 42 3 | | Solute Carrier Family 9 (Sodium/Hydrogen Exchanger)2 | | NHE-42 3 | | |
Export aliases for SLC9A4 gene to outside databasesPrevious GC identifers: GC02U990082 GC02P102745 GC02P102456 GC02P096854 |
Summaries for SLC9A4 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: SL9A4_HUMAN, Q6AI14Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverseenvironmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays animportant role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in responseto extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride(EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustainedintracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) ina sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/protonand lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH,and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membranemay be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretorymembrane development, parietal cell maturation and/or differentiation and at least secondarily for chief celldifferentiation (By similarity)
|
Genomic Views for SLC9A4 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_000002.11 NC_018913.1 NT_022171.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC9A4 gene promoter: AML1a ATF-2 LCR-F1 AREB6 S8 Nkx6-1 c-Jun TGIF Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC9A4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9A4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q12.1 Ensembl cytogenetic band: 2q12.1 HGNC cytogenetic band: 2q12.1SLC9A4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P103089: view genomic region
(about GC identifiers)
Start:
|
103,089,762 bp from pter |
End:
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103,150,431 bp from pter |
Size:
|
60,670 bases |
Orientation:
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plus strand |
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Proteins for SLC9A4 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: SL9A4_HUMAN, Q6AI14 (See
protein sequence)Recommended Name: Sodium/hydrogen exchanger 4 Size: 798 amino acids; 89814 Da
Subunit: Interacts with CHP1 and CHP2 (By similarity)
Subcellular location: Apical cell membrane; Multi-pass membrane protein (By similarity). Basolateral cell membrane;Multi-pass membrane protein (By similarity). Cytoplasmic granule membrane; Multi-pass membrane protein (Bysimilarity). Note=Found in zymogen granule membranes (By similarity)
Caution: The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary amongauthors
Secondary accessions: Q69YK0Explore the universe of human proteins at neXtProt for SLC9A4: NX_Q6AI14
Post-translational modifications:
May be phosphorylated (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6AI14 SLC9A4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001011552.2 ENSEMBL proteins: ENSP00000295269 Reactome Protein details: Q6AI14 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SLC9A4 for ontologies About GeneDecksing
SLC9A4 Antibody Products: Assay Products for SLC9A4: |
Protein
Domains / Families for SLC9A4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC9A4 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6AI14ProtoNet protein and cluster: Q6AI14 2 Blocks protein families: IPB004709 Na+/H+ exchanger signature IPB006153 Sodium/hydrogen exchanger
UniProtKB/Swiss-Prot: SL9A4_HUMAN, Q6AI14Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family |
Function for SLC9A4 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: SL9A4_HUMAN, Q6AI14Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverseenvironmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays animportant role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in responseto extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride(EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustainedintracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) ina sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/protonand lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH,and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membranemay be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretorymembrane development, parietal cell maturation and/or differentiation and at least secondarily for chief celldifferentiation (By similarity) Genatlas biochemistry entry for SLC9A4:solute carrier protein family 9 (sodium/hydrogen exchange),member 4,involved in intracellular pH regulation and cellvolume,isoform 4,expressed in stomach,kidney,brain,uterus,skeletalmuscle
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 SLC9A4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC9A4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for SLC9A4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A4  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A4 |
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:0015385 | sodium:hydrogen antiporter activity |
IEA | -- |
SLC9A4 for ontologies About GeneDecksing
Animal Models: Mouse knock-out Slc9a4tm1Ges for SLC9A4 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Slc9a4):
SLC9A4 for phenotypes About GeneDecksing
|
Pathways & Interactions for SLC9A4 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
| Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | SLC-mediated transmembrane transport | | | 2 | Gastric acid secretion | | | 3 | Sodium/Proton exchangers | | | 4 | Amino acid and oligopeptide SLC transporters | | | 5 | CREB Pathway | |
Pathway sources See GeneCards unified pathways Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC9A4 4
Reactome Pathways for SLC9A4 1 PharmGKB Pathway for SLC9A4 1
Kegg Pathway (Kegg details for SLC9A4):
SLC9A4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC9A4
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 2 Interacting proteins for SLC9A4 (Q6AI143 ENSP000002952694) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
SLC9A4 for ontologies About GeneDecksing
|
Drugs & Compounds for SLC9A4 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 SLC9A4
1 HMDB Compound for SLC9A4 About this table Search CenterWatch for drugs/clinical trials and news about SLC9A4 / SL9A4 
|
Transcripts for SLC9A4 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 SLC9A4 gene: NM_001011552.3 Unigene Cluster for SLC9A4: Solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 Hs.447686 [show with all ESTs]Unigene Representative Sequence: NM_0010115522 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000295269(uc002tbz.4) ENST00000492154
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC9A4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC9A4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SLC9A4 (NM_001011552) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC9A4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A4  |
Additional cDNA sequence: AL833048.1 CR627411.1 1 DOTS entry: DT.99950666 GeneLoc Exon Structure
|
Expression for SLC9A4 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
| SLC9A4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TGTCTTTAAA
About this image See SLC9A4 Protein Expression from SPIRE MOPED and PaxDB SOURCE GeneReport for Unigene cluster: Hs.447686 SABiosciences Custom PCR Arrays for SLC9A4
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC9A4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC9A4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC9A4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC9A4 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A4 |
Orthologs for SLC9A4 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 last universal common ancestor (LUCA).
Orthologs for SLC9A4 gene from 5/20 species (see all 20) About this table
ENSEMBL Gene Tree for SLC9A4 (if available) TreeFam Gene Tree for SLC9A4 (if available)  |
Paralogs for SLC9A4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SLC9A4 gene
- SLC9A62 SLC9A32 SLC9A82 SLC9A12 SLC9A92 SLC9A52 SLC9A22 SLC9A72
4 SIMAP similar genes for SLC9A4 using alignment to 1 protein entry: SL9A4_HUMAN:SLC9A2 SLC9A1 SLC9A5 SLC9A3
SLC9A4 for paralogs About GeneDecksing
|
Genomic Variants for SLC9A4 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 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC9A4 (103089762 - 103150431 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SLC9A4 1 Indel: 89847  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC9A4 |
|
Disorders
/ Diseases for SLC9A4 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
|
SLC9A4 for disorders About GeneDecksing
OMIM gene information: 600531
OMIM disorders: --
5 diseases for SLC9A4: About MalaCardsceliac disease colon cancer pneumonia tuberculosis mycobacterium tuberculosis Human Genome Epidemiology (HuGE) Navigator: SLC9A4 (1 document) Export disorders for SLC9A4 gene to outside databases
|
Publications for SLC9A4 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 SLC9A4 gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with SLC9A4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Chromosomal assignment of four genes encoding Na/H ex changer isoforms in human and rat. (PubMed id 8199403)1, 3 Szpirer C....Orlowski J. (1994)
- NHE1, NHE2, and NHE4 contribute to regulation of cell pH in T84 colon cancer cells. (PubMed id 17943310)1, 9 Beltran A.R....Malnic G. (2008)
- Functional role of NHE4 as a pH regulator in rat and h uman colonic crypts. (PubMed id 22049213)1 Arena E.A....Geibel J.P. (2012)
- Identification of nine novel loci associated with whi te blood cell subtypes in a Japanese population. (PubMed id 21738478)1 Okada Y....Kamatani N. (2011)
- Newly identified genetic risk variants for celiac disease related to the immune response. (PubMed id 18311140)1 Hunt K.A.... van Heel D.A. (2008)
- Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)2 Denis N.J.... Figeys D. (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)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- Calcineurin homologous protein isoform 2 (CHP2), Na+/H+ exchangers-binding protein, is expressed in intestinal epithelium. (PubMed id 12576672)1 Inoue H....Kanazawa H. (2003)
|
External Searches for SLC9A4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SLC9A4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC9A4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC9A4 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 SLC9A4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SLC9A4 gene: Search GeneIP for patents involving SLC9A4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SLC9A4 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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 | | SLC9A4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A4 |
|  |  |  | | | Search ThermoFisher Antibodies for SLC9A4 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A4 |
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