HMSD Gene
protein-coding GIFtS : 36
GCID: GC18 P061616
histocompatibility (minor) serpin domain containing (Previous symbol: C18orf53 )
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Aliasesfor HMSD 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 Aliases Histocompatibility (Minor) Serpin Domain Containing 1 2 HSMD-V1 C18orf531 2 3 Serpin-Like Protein HMSD2 ACC-61 2 Minor Histocompatibility Serpin Domain-Containing Protein3 Minor Histocompatibility Protein HMSD2 3
Export aliases for HMSD gene to outside databases Previous GC identifers: GC18P059768 GC18P058317
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Summariesfor HMSD 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 HMSD : This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. (provided by RefSeq, Oct 2010) UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 Function : Putative serine protease inhibitor (By similarity)
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Genomic Viewsfor HMSD 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_000018.9 NC_018929.1 NT_025028.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HMSD gene promoter: POU3F1 FOXO3 LCR-F1 FOXO3b FOXL1 MEF-2A POU2F1 POU2F1a FOXO3a aMEF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for HMSD Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMSD
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 18q22.1 Ensembl cytogenetic band: 18q22.1 HGNC cytogenetic band: 18q21.33 HMSD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 18 GeneLoc Exon Structure
GeneLoc location for GC18P061616: view genomic region
(about GC identifiers )
Start:
61,616,535 bp from pter
End:
61,649,008 bp from pter
Size:
32,474 bases
Orientation:
plus strand
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Proteinsfor HMSD 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: HMSDV_HUMAN, P0C7T4 (See
protein sequence )Recommended Name: Minor histocompatibility protein HMSD variant form Size : 53 amino acids; 6023 Da
Subunit : ACC-6 forms a complex with MHC HLA-B*4403
Caution : Translation of HMSD-v form generating mHA ACC-6 is in a frame different from that resulting in HMSD nonvariant form expression. Thus, the HMSD non variant form sequence does not contain the mHA ACC-6 peptide Alternative splicing : 2 isoforms : P0C7T4-1 A8MTL9-1 (This alternative splicing is due 1 intronic SNP)UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 (See
protein sequence )
Recommended Name: Serpin-like protein HMSD precursor Size : 139 amino acids; 15355 Da
Subcellular location : Secreted (Potential)
Caution : Translation of HMSD-v form generating mHA ACC-6 is in a frame different from that resulting in HMSD nonvariant form expression. Thus, HMSD sequence described in this entry does not contain the mHA ACC-6 peptide Alternative splicing : 2 isoforms : A8MTL9-1 P0C7T4-1 (This alternative splicing is due 1 intronic SNP)Explore the universe of human proteins at neXtProt for HMSD: NX_A8MTL9 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_A8MTL9 HMSD Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001116838.1 ENSEMBL proteins: ENSP00000386207 ENSP00000431632 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA --
HMSD for ontologies About GeneDecksing HMSD Antibody Products: Assay Products for HMSD:
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Protein
Domains / Familiesfor HMSD gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HMSD for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P0C7T4 Graphical View of Domain Structure for InterPro Entry A8MTL9 ProtoNet protein and cluster: P0C7T4
UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 Similarity : Belongs to the serpin family
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Functionfor HMSD gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: HMSDV_HUMAN, P0C7T4 Function : This allelic splice variant of HMSD is the precursor of the histocompatibility antigen ACC-6. More generally,minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. However, associated with GVHD, a favorable graft-versus-leukemia (GVL) can be induced by donor-recipient disparities in mHags. ACC-6 is presented to the cell surface by MHC HLA-B*4403. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. Immunogenicity of most autosomal mHags results from single-nucleotide polymorphisms that cause amino-acid substitutions within epitopes, leading to the differential recognition of peptides between donor and recipient UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 Function : Putative serine protease inhibitor (By similarity)
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 HMSD OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMSDOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HMSD (NM_001123366 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMSD Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HMSD
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:0004867 serine-type endopeptidase inhibitor activity
IEA --
HMSD for ontologies About GeneDecksing
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Pathways & Interactionsfor HMSD 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 HMSD
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Drugs & Compoundsfor HMSD 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 HMSD Search CenterWatch for drugs/clinical trials and news about HMSD
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Transcriptsfor HMSD 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
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GenScript ,
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Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for HMSD gene: NM_001123366.1 Unigene Cluster for HMSD:
Histocompatibility (minor) serpin domain containing Hs.721604 [show with all ESTs ] Unigene Representative Sequence: BM910193 4 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000408945 (uc010dqj.3 ) ENST00000481726 ENST00000526932 ENST00000498680 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HMSD OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMSDOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HMSD (NM_001123366 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMSD Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HMSD
1 DOTS entry : DT.75174437
24/66 AceView cDNA sequences (see all 66 ):
AL711105 AA972628 NM_198833 BM696260 CK904587 AA360401 CK904586 NM_002640 CB122815 BC034528 CF130399 BP364026 AF118928 CA445967 L40377 BM987817 AL597104 BX571754 BQ435307 AL708543 CB151896 BM991416 AI767324 CD369662 GeneLoc Exon Structure
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Expression for HMSD 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 HMSD expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGGGCAAAGG
About this image HMSD expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See HMSD Protein Expression from SPIRE MOPED and PaxDB SOURCE GeneReport for Unigene cluster: Hs.721604 UniProtKB/Swiss-Prot: HMSDV_HUMAN, P0C7T4 Tissue specificity : Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloidlineage. ACC-6 expression is limited to cells of the hematopoietic lineage UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 Tissue specificity : Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloid lineage SABiosciences Custom PCR Arrays for HMSD Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HMSDBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse / rat HMSD QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HMSD QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HMSD
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Orthologsfor HMSD 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
--
ENSEMBL Gene Tree for HMSD (if available)TreeFam Gene Tree for HMSD (if available)
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Paralogsfor HMSD gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor HMSD 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 UniProtKB/Swiss-Prot: HMSD_HUMAN, A8MTL9 Polymorphism : Minor histocompatibility antigen ACC-6 (mHA ACC-6) is encoded by HMSD-v which is an allelic variant ofHMSD. HMSD-v results from an intronic single-nucleotide polymorphism located at position 5 of HMSD intron 2 leading to a G to A substitution. This variation in intron 2 induces skipping of exon 2 and frameshift, resulting in expression of ACC-6 Polymorphism : Minor histocompatibility antigen ACC-6 (mHA ACC-6) is encoded by HMSD-v which is an allelic variant ofHMSD. HMSD-v results from an intronic single-nucleotide polymorphism located at position 5 of HMSD intron 2 leading to a G to A substitution. This variation in intron 2 induces skipping of exon 2 and frameshift, resulting in expression of ACC-6
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 18 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HMSD (61616535 - 61649008 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for HMSD 2 CNVs : 88880 67377 Human Gene Mutation Database (HGMD) : HMSD SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HMSD
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Disorders
/ Diseasesfor HMSD 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
HMSD for disorders About GeneDecksing
OMIM gene information: 612086
OMIM disorders : --2 diseases for HMSD : About MalaCards graft versus host disease leukemia Export disorders for HMSD gene to outside databases
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Publicationsfor HMSD 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 HMSD gene integrated from 9 sources : (articles sorted by number of sources associating them with HMSD) Utopia : connect your pdf to the dynamic world of online information
Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. (PubMed id 17409267) 1 , 2 , 3 Kawase T.... Takahashi T. (2007) DNA sequence and analysis of human chromosome 18. (PubMed id 16177791) 1 , 2 Nusbaum C.... Lander E.S. (2005) Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548) 1 , 2 Bonaldo M.F.... Soares M.B. (1996)
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External Searches for HMSD gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HMSD 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 HMSD gene
(According to HUGE )
About This Section --
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Specialized Databases showing HMSD 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 HMSD Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HMSD gene: Search GeneIP for patents involving HMSD GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HMSD 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 HMSD OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HMSD OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HMSD OriGene Protein Over-expression Lysate for HMSD Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HMSD OriGene 3'-UTR Clone for HMSD OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMSD OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HMSD 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 HMSD OriGene Custom Protein Services for HMSD OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMSD QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HMSD QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMSD QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HMSD QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HMSD QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HMSD
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HMSD Proteins, Antibodies, CLIAs, and ELISAs
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Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HMSD
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Aliases for HMSD
Databases for HMSD
Disorders / Diseases for HMSD
Domains / Families for HMSD
Drugs / Compounds for HMSD
Expression for HMSD
Function for HMSD
Genomic Views for HMSD
Intellectual Property for HMSD
Orthologs for HMSD
Paralogs for HMSD
Pathways / Interactions for HMSD
Products for HMSD
Proteins for HMSD
Publications for HMSD
Search Box for HMSD
Summaries for HMSD
Transcripts for HMSD
Variants for HMSD
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