TMEM30A Gene
protein-coding GIFtS: 46
GCID: GC06M075962
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transmembrane protein 30A(Previous name: chromosome 6 open reading frame 67 )
(Previous symbol: C6orf67)
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Aliases
for TMEM30A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Transmembrane Protein 30A1 2 3 | | CDC50A1 2 3 5 | | C6orf671 2 3 | | FLJ108561 | | Chromosome 6 Open Reading Frame 671 | | Cell Cycle Control Protein 50A2 |
Export aliases for TMEM30A gene to outside databasesPrevious GC identifers: GC06M075959 GC06M076019 GC06M073161 |
Summaries
for TMEM30A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for TMEM30A 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_000006.11 NC_018917.1 NT_007299.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TMEM30A gene promoter:
GCNF USF2 Olf-1 HOXA5 GCNF-1 c-Myb Zic3 GCNF-2 MRF-2 ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for TMEM30A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM30A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q14.1 Ensembl cytogenetic band: 6q14.1 HGNC cytogenetic band: 6q14.1TMEM30A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M075962: view genomic region
(about GC identifiers)
Start:
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75,962,638 bp from pter |
End:
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75,994,684 bp from pter |
Size:
|
32,047 bases |
Orientation:
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minus strand |
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Proteins
for TMEM30A 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: CC50A_HUMAN, Q9NV96 (See
protein sequence)Recommended Name: Cell cycle control protein 50A Size: 361 amino acids; 40684 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A8K9V8 E1P539 Q658Z3 Q96H09 Q9NSL9Alternative splicing: 3 isoforms: Q9NV96-1 Q9NV96-2 Q9NV96-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TMEM30A: NX_Q9NV96
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NV96
TMEM30A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001137430.1 NP_060717.1
ENSEMBL proteins: ENSP00000230461 ENSP00000359067 ENSP00000431007 ENSP00000430270
Human Recombinant Protein Products for TMEM30A:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TMEM30A for ontologies About GeneDecksing
TMEM30A Antibody Products:
Assay Products for TMEM30A: |
Protein
Domains /
Families
for TMEM30A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TMEM30A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NV96ProtoNet protein and cluster: Q9NV96 1 Blocks protein family: IPB005045 Eukaryotic protein of unknown function DUF284
UniProtKB/Swiss-Prot: CC50A_HUMAN, Q9NV96Similarity: Belongs to the CDC50/LEM3 family |
Function
for TMEM30A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
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:0005515 | protein binding |
IPI | -- |
TMEM30A for ontologies 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 TMEM30A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM30A (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): TMEM30A (NM_001143958) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM30A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A |
|
Pathways & Interactions
for TMEM30A 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 TMEM30A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/12 Interacting proteins for TMEM30A (ENSP000003590674) via UniProtKB, MINT, STRING, and/or I2D (see all 12)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0036010 | protein localization to endosome |
IMP | -- | | GO:0070863 | positive regulation of protein exit from endoplasmic reticulum |
IDA | -- |
TMEM30A for ontologies About GeneDecksing
|
Drugs & Compounds
for TMEM30A 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 TMEM30A
Search CenterWatch for drugs/clinical trials and news about TMEM30A / CC50A
|
Transcripts
for TMEM30A 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 TMEM30A gene (2 alternative transcripts): NM_001143958.1 NM_018247.3 Unigene Cluster for TMEM30A: Transmembrane protein 30A Hs.108530 [show with all ESTs]Unigene Representative Sequence: NM_0182474 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000230461(uc003phw.2 uc003phx.2) ENST00000370050 ENST00000475111
ENST00000518161
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM30A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM30A (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): TMEM30A (NM_001143958) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM30A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A |
Additional cDNA sequence: AJ420517.1 AK001718.1 AK022883.1 AK292823.1 AK293225.1 AK295567.1 AL162046.1 AL832490.1 AL832815.1 BC009006.1 17 DOTS entries: DT.75154392 DT.100823889 DT.121347370 DT.100823883 DT.95158518 DT.100823893 DT.121347388 DT.121347373 DT.40205730 DT.121347364 DT.100823891 DT.91968260 DT.91903991 DT.121347357 DT.91665904 DT.92449453 DT.95158517 24/569 AceView cDNA sequences (see all 569): CR607390 AL832490 AI825457 AU133305 AI868303 BE858991 BF476077 AI687254 AI566640 AI613145 CR610670 BP353818 AI439448 AA247765 AI719917 AI083985 AI540380 AI929577 AI983479 AA488710 AI444975 BP335724 AL043750 AL043751
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM30A About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
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| SP1: | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | |
| SP3: | | | - | | - | | | | | | | | | |
ECgene alternative splicing isoforms for TMEM30A
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Expression
for TMEM30A 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
| TMEM30A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACCATTCAG
About this image
See TMEM30A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM30A
SOURCE GeneReport for Unigene cluster: Hs.108530
SABiosciences Custom PCR Arrays for TMEM30A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM30A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMEM30A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM30A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM30A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A |
Orthologs
for TMEM30A 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 eukaryotes.
Orthologs for TMEM30A gene from 9/34 species (see all 34) About this table
ENSEMBL Gene Tree for TMEM30A (if available)
TreeFam Gene Tree for TMEM30A (if available) |
Paralogs
for TMEM30A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TMEM30A gene
- TMEM30B2
2 SIMAP similar genes for TMEM30A using alignment to 2 protein entries: CC50A_HUMAN (see all proteins):TMEM30B TMEM30C
TMEM30A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for TMEM30A
PGOHUM00000238115
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Genomic Variants
for TMEM30A 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 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TMEM30A (75962638 - 75994684 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TMEM30A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM30A |
|
Disorders
/ Diseases
for TMEM30A 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
|
TMEM30A for disorders About GeneDecksing
OMIM gene information: 611028
OMIM disorders: --
4  diseases for TMEM30A: About MalaCardsintrahepatic cholestasis cholestasis malaria carcinoma
Export disorders for TMEM30A gene to outside databases
|
Publications
for TMEM30A 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 TMEM30A gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with TMEM30A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. (PubMed id 15375526)1, 2, 3, 9 Katoh Y. and Katoh M. (2004)
- 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)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
- 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)
- Human TMEM30a promotes uptake of antitumor and bioact ive choline phospholipids into mammalian cells. (PubMed id 21289302)1 Chen R....McIntyre T.M. (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)
- Critical role of the beta-subunit CDC50A in the stabl e expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2. (PubMed id 21454556)1 Coleman J.A. and Molday R.S. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
|
External Searches for TMEM30A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TMEM30A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TMEM30A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TMEM30A 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 TMEM30A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TMEM30A gene:
Search GeneIP for patents involving TMEM30A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TMEM30A 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 TMEM30A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM30A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM30A | | | OriGene Protein Over-expression Lysate for TMEM30A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TMEM30A | | OriGene 3'-UTR Clone for TMEM30A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM30A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM30A | | | 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 | | | OriGene Purified Protein for TMEM30A | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for TMEM30A | | OriGene Custom Protein Services for TMEM30A | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM30A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM30A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM30A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM30A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM30A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM30A |
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| | | | Search Tocris compounds for TMEM30A |
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 | | | TMEM30A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A |
|  |  |  |  | | | | Search ThermoFisher Antibodies for TMEM30A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A |
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