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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYH9 Gene

protein-coding   GIFtS: 72
GCID: GC22M036677

Myosin, Heavy Chain 9, Non-Muscle

(Previous names: myosin, heavy polypeptide 9, non-muscle)
(Previous symbol: DFNA17)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin, Heavy Chain 9, Non-Muscle1 2     MHA2 5
DFNA171 2 5     Myosin, Heavy Polypeptide 9, Non-Muscle1
Nonmuscle Myosin Heavy Chain II-A1 2     BDPLT62
Cellular Myosin Heavy Chain, Type A2 3     EPSTS2
Myosin Heavy Chain 92 3     NMHC-II-A2
Myosin Heavy Chain, Non-Muscle IIa2 3     NMMHCA2
Non-Muscle Myosin Heavy Chain A2 3     myosin-92
Non-Muscle Myosin Heavy Chain IIa2 3     Non-Muscle Myosin Heavy Polypeptide 92
NMMHC-IIA2 3     NMMHC-A3
FTNS2 5     NMMHC II-A3

External Ids:    HGNC: 75791   Entrez Gene: 46272   Ensembl: ENSG000001003457   OMIM: 1607755   UniProtKB: P355793   

Export aliases for MYH9 gene to outside databases

Previous GC identifers: GC22M033322 GC22M034949 GC22M035001 GC22M019645


(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 MYH9 Gene:
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional
myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and
a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility
and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural
deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian
syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. (provided by
RefSeq, Dec 2011)

GeneCards Summary for MYH9 Gene: 
MYH9 (myosin, heavy chain 9, non-muscle) is a protein-coding gene. Diseases associated with MYH9 include sebastian syndrome, and myh9-related disorders, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Antioxidant Action of Vitamin-C. GO annotations related to this gene include calmodulin binding and protein homodimerization activity. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
as secretion and capping

summary for MYH9 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH9 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYH9 gene promoter:
         Max1   USF1   MyoD   Tal-1beta   E47   c-Ets-1   USF-1   Cart-1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MYH9 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYH9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

MYH9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH9 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036677:  view genomic region     (about GC identifiers)

Start:
36,677,323 bp from pter      End:
36,784,063 bp from pter
Size:
106,741 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579 (See protein sequence)
Recommended Name: Myosin-9  
Size: 1960 amino acids; 226532 Da
Subunit: Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). Myosin is a hexameric
protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light
chain subunits (MLC-2). Interacts with RASIP1. Interacts with DDR1 (By similarity). Interacts with SVIL and HTRA3
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity).
Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (By
similarity)
Sequence caution: Sequence=CAD89954.1; Type=Frameshift; Positions=1890;
3 PDB 3D structures from and Proteopedia for MYH9:
2LNK (3D)        3ZWH (3D)        4ETO (3D)    
Secondary accessions: O60805 Q86T83
Alternative splicing: 2 isoforms:  P35579-1   P35579-2   

Explore the universe of human proteins at neXtProt for MYH9: NX_P35579

Explore proteomics data for MYH9 at MOPED 

Post-translational modifications:

  • UniProtKB: ISGylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35579

  • MYH9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH9 Protein Expression
    REFSEQ proteins: NP_002464.1  
    ENSEMBL proteins: 
     ENSP00000216181   ENSP00000384631   ENSP00000414852  
    Reactome Protein details: P35579
    Human Recombinant Protein Products for MYH9: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MYH9
    GenScript Custom Purified and Recombinant Proteins Services for MYH9
    Novus Biologicals MYH9 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH9 

    Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA14508515
    GO:0001726ruffle IDA16403913
    GO:0001772colocalizes with immunological synapse IDA15064761
    GO:0001931uropod IDA15064761
    GO:0005634nucleus IDA14508515

    MYH9 for ontologies           About GeneDecksing



    MYH9 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH9
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    Cell Signaling Technology (CST) Antibodies for MYH9 
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    Abcam antibodies for MYH9
    Cloud-Clone Corp. Antibodies for MYH9 
    ThermoFisher Antibody for MYH9
    LSBio Antibodies in human, mouse, rat for MYH9 

    Assay Products for MYH9: 
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    GenScript Custom Assay Services for MYH9
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MYH9 
    Cloud-Clone Corp. CLIAs for MYH9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYHII: Myosins / Myosin superfamily : Class II

    5/7 InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail

    Graphical View of Domain Structure for InterPro Entry P35579

    ProtoNet protein and cluster: P35579

    4 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002017 Spectrin repeat
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of
    4 heptapeptides, characteristic for alpha-helical coiled coils
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    MYH9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH9_HUMAN, P35579
    Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
    as secretion and capping

         Genatlas biochemistry entry for MYH9:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 9,non muscle

         Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IDA12237319
    GO:0000166nucleotide binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003774motor activity NAS12421915
    GO:0003779actin binding IDA15065866
         
    MYH9 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYH9:
     Increased focal adhesion (FA)   Large cells 

         13 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Myh9):
     cardiovascular system  cellular  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     normal  renal/urinary system  vision/eye 

    MYH9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MYH9: Myh9tm1.2Gac Myh9tm1Maco

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH9 

    miRNA
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    miRTarBase miRNAs that target MYH9:
    hsa-mir-124 (MIRT002579)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH9
    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate MYH9 (see all 47):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidMYH9 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYH9
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYH9 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    2PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    3Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    4Sema4D in semaphorin signaling
    Sema4D in semaphorin signaling0.89
    Semaphorin interactions0.41
    Sema4D induced cell migration and growth-cone collapse0.89
    5Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH9
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYH9 (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for MYH9
        Cytoskeletal Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for MYH9 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    5/9        Reactome Pathways for MYH9 (see all 9)
        Developmental Biology
    Fcgamma receptor (FCGR) dependent phagocytosis
    Semaphorin interactions
    Sema4D induced cell migration and growth-cone collapse
    Regulation of actin dynamics for phagocytic cup formation


    4         Kegg Pathways  (Kegg details for MYH9):
        Tight junction
    Regulation of actin cytoskeleton
    Salmonella infection
    Viral myocarditis


    MYH9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYH9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/991 Interacting proteins for MYH9 (P355791, 2, 3 ENSP000002161814) via UniProtKB, MINT, STRING, and/or I2D (see all 991)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCLP193381, 2, 3, ENSP000003181954EBI-350338,EBI-346967 MINT-7945693 I2D: score=2 STRING: ENSP00000318195
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7899812 MINT-7900157 MINT-7947479 I2D: score=4 STRING: ENSP00000349960
    HSP90AB1P082382, 3MINT-7945693 MINT-72662 MINT-7947479 I2D: score=3 
    CALM1P621582, 3MINT-7899812 I2D: score=1 
    CALM2P621582, 3MINT-7899812 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000212meiotic spindle organization IEA--
    GO:0000904cell morphogenesis involved in differentiation ----
    GO:0000910cytokinesis IMP15774463
    GO:0001525angiogenesis IDA16403913
    GO:0001701in utero embryonic development IEA--

    MYH9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYH9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYH9 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    4 Novoseek inferred chemical compound relationships for MYH9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phorbol 21.5 1 15496418 (1)
    calcium 0 1 18312684 (1)
    threonine 0 1 10945986 (1)
    tyrosine 0 1 19401332 (1)

    Search CenterWatch for drugs/clinical trials and news about MYH9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYH9 gene: 
    NM_002473.4  

    Unigene Cluster for MYH9:

    Myosin, heavy chain 9, non-muscle
    Hs.474751  [show with all ESTs]
    Unigene Representative Sequence: NM_002473
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216181(uc003apg.3 uc003aph.1) ENST00000475726 ENST00000486218
    ENST00000459960 ENST00000495928 ENST00000473022 ENST00000477189 ENST00000472210
    ENST00000463027 ENST00000401701(uc003api.1) ENST00000456729
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate MYH9 (see all 47):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH9

    Additional mRNA sequence: 

    AB191263.1 AB290175.1 AK025219.1 AK025393.1 AK131080.1 AK291609.1 AK304840.1 BC011915.2 
    BC049849.1 BC090921.1 BC111387.1 BC113067.1 BC131741.1 CR456526.1 D11393.1 HQ326701.1 
    L29141.1 M31013.1 M69180.1 M81105.1 

    24/58 DOTS entries (see all 58):

    DT.95126859  DT.119239  DT.92464957  DT.95347813  DT.97761844  DT.100659644  DT.100659636  DT.100659653 
    DT.91985714  DT.120655569  DT.95347783  DT.120655540  DT.100659655  DT.120655825  DT.120655658  DT.100659642 
    DT.120655748  DT.120655676  DT.91811745  DT.100659641  DT.102840742  DT.95347683  DT.97867641  DT.120655554 

    24/1191 AceView cDNA sequences (see all 1191):

    BQ688338 BU632240 AW192058 BM454409 CA442197 BU625874 AI539529 AW511726 
    BQ707568 BQ641343 AA856897 AW511520 CA430467 BU622803 BE795516 H55296 
    BG325739 AW004952 CF995724 BE311756 BI028048 CN484067 BQ920939 AW583843 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^
    SP1:                                                  -                             -                                                                           
    SP2:              -                                   -                             -                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b · 38c ^ 39 ^
    SP1:                          -     -     -     -     -     -     -     -     -     -     -     -     -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                  -     -   
    SP5:                                                                                                                                                            

    ExUns: 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b
    SP1:  -                                                                                       
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:  -     -     -     -                                                                     
    SP5:  -           -     -     -     -                                                         


    ECgene alternative splicing isoforms for MYH9

    (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

    MYH9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTAAAAAA
    MYH9 Expression
    About this image


    See MYH9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH9

    SOURCE GeneReport for Unigene cluster: Hs.474751

    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
    Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYH9: 
              Cell Surface Markers in human mouse rat
              Cell Motility in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MYH9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYH9
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH9
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

    (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 animals and fungi.

    Orthologs for MYH9 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh91 , 5 myosin, heavy polypeptide 9, non-muscle1, 5 90.51(n)1
    97.09(a)1
      15 (36.81 cM)5
    178861  NM_022410.21  NP_071855.21 
     777605875 
    chicken
    (Gallus gallus)
    Aves MYH91 myosin, heavy chain 9, non-muscle 80.91(n)
    92.75(a)
      396469  NM_205477.1  NP_990808.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYH96
    Uncharacterized protein
    92(a)
    1 ↔ 1
    5(22047775-22130391)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF055895.12   -- 76.39(n)    AF055895.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045324.12   -- 77.88(n)   393797  BC045324.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta zip3 NOT muscle attachment myosin ATPase 61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nmy-13 myosin 50(a)
    (best of 6)
      X(2944856-2952845)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO16
    Type II myosin heavy chain, required for wild-type...
    29(a)
    1 → many
    VIII(151666-157452)


    ENSEMBL Gene Tree for MYH9 (if available)
    TreeFam Gene Tree for MYH9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYH9 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/40 SIMAP similar genes for MYH9 using alignment to 6 protein entries:     MYH9_HUMAN (see all proteins) (see all similar genes):
    FLJ00279    DKFZp686D10126    MYH11    MYH10    MYH14    MYO1C
    MYO1E    MYO3B    MYO9B    MYO9B variant protein    MYH7    MYO15A
    MYO9A    MYH6    MYO1H    MYH13    MYH2    MYO1G

    MYH9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MYH9
    PGOHUM00000263186


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    2156/2780 SNPs in MYH9 are shown (see all 2780)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0183164
    Sebastian syndrome (SBS)4--see VAR_0183162 D N mis40--------
    VAR_0183104
    Sebastian syndrome (SBS)4--see VAR_0183102 K N mis40--------
    VAR_0107944
    May-Hegglin anomaly (MHA)4--see VAR_0107942 T I mis40--------
    VAR_0107934
    Deafness, autosomal dominant, 17 (DFNA17)4--see VAR_0107932 R H mis40--------
    VAR_0442264
    Fechtner syndrome (FTNS)4--see VAR_0442262 K Q mis40--------
    VAR_0183174
    May-Hegglin anomaly (MHA)4--see VAR_0183172 D Y mis40--------
    VAR_0107964
    May-Hegglin anomaly (MHA)4--see VAR_0107962 D H mis40--------
    VAR_0360064
    A breast cancer sample4--see VAR_0360062 K N mis40--------
    VAR_0107974
    Sebastian syndrome (SBS)4--see VAR_0107972 E K mis40--------
    VAR_0183114
    Epstein syndrome (EPS)4--see VAR_0183112 R H mis40--------
    VAR_0183124
    Alport syndrome, with macrothrombocytopenia (APSM)4--see VAR_0183122 S P mis40--------
    VAR_0107954
    Sebastian syndrome (SBS)4--see VAR_0107952 R C mis40--------
    VAR_0107924
    Sebastian syndrome (SBS)4--see VAR_0107922 R C mis40--------
    VAR_0183094
    Epstein syndrome (EPS)4--see VAR_0183092 S L mis40--------
    VAR_0303854
    Epstein syndrome (EPS)4--see VAR_0303852 I V mis40--------
    VAR_0107914
    May-Hegglin anomaly (MHA)4--see VAR_0107912 N K mis40--------
    VAR_0183084
    May-Hegglin anomaly (MHA)4--see VAR_0183082 A T mis40--------
    VAR_0183134
    Sebastian syndrome (SBS)4--see VAR_0183132 R L mis40--------
    rs22695291,2,4
    C,F,A,Hnon-pathogenic120605791(+) GTCGAT/CGTGCG 2 /I /V mis1 ese324Minor allele frequency- C:0.20MN NA NS EA CSA EU 8323
    rs169966521,2,4
    Cnon-pathogenic120617686(+) TGGTCA/TCCTTC 2 E V mis1 spl34Minor allele frequency- T:0.01NA 144
    rs803388351,2
    Cpathogenic120600237(-) CCCGCC/TGAATG 2 R * stg10--------
    rs803388341,2
    Cpathogenic120601957(-) GGACCA/GAGAAG 2 K E mis10--------
    rs803388311,2
    Cpathogenic120609543(-) TGGACA/C/G/
            
    ACCTG
    4 N H D Y mis10--------
    rs803388291,2
    Cpathogenic120612552(-) CAAAAC/TGTGAG 2 R C mis10--------
    rs803388281,2
    Cpathogenic120623458(-) CTGCCA/GCCAGG 2 H R mis10--------
    rs803388271,2
    Cpathogenic120623467(-) CATCCA/GTATCT 2 H R mis10--------
    rs803388261,2
    Cpathogenic120623468(-) GCATCC/TGTATC 2 R C mis10--------
    rs1419046821,2
    Cuntested120611270(+) CCAGCA/GCGGAG 2 A V mis10--------
    rs1921918811,2
    --20598325(+) CAATCG/TTAGCT 1 -- ds50010--------
    rs96073311,2
    F--20598353(+) cccggA/Gttcaa 1 -- ds50010--------
    rs1850346601,2
    --20598364(+) GCGATC/TCTCCT 1 -- ds50010--------
    rs1895657841,2
    --20598365(+) CGATTA/CTCCTG 1 -- ds50010--------
    rs1505742401,2
    C--20598409(+) CACACC/GACCAC 1 -- ds50010--------
    rs1127275201,2
    C,F--20598428(+) AATTTG/TTTTTG 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1822240641,2
    --20598691(+) CGGCAC/TTGGCT 1 -- ds50010--------
    rs1881590811,2
    --20598722(+) TGTCCA/GGGGCC 1 -- ds50010--------
    rs1443350481,2
    C--20598757(+) GACACA/GGCTCG 1 -- ds50010--------
    rs1119597951,2
    C--20598764(+) CTCGTT/AGCACA 1 -- ut311Minor allele frequency- A:0.00CSA 1
    rs1465828281,2
    C--20598822(+) TTACTA/GTAGTG 1 -- ut310--------
    rs24811,2
    C,F,A,H--20598837(-) TGTTGC/TAGCTG 1 -- ut31 ese320Minor allele frequency- T:0.44EA MN NS NA CSA WA 4163
    rs1912562551,2
    --20598880(+) GGGTAA/GGGTGG 1 -- ut310--------
    rs1836045491,2
    --20598906(+) CTTTGC/TGACAG 1 -- ut310--------
    rs1884895921,2
    --20598977(+) TTGAGA/GGTTTG 1 -- ut310--------
    rs115499121,2
    C--20599166(+) AAAAAA/GAAAAC 1 -- ut310--------
    rs1925111111,2
    C--20599245(+) GTAAAA/CCACCC 1 -- ut310--------
    rs70781,2
    C,F,O,A--20599351(-) ATATAT/CTTAAT 1 -- ut3114Minor allele frequency- C:0.19MN NA WA EA 1064
    rs121071,2
    C,F,A,H--20599419(-) GCTGTC/TGGGGT 1 -- ut31 ese313Minor allele frequency- T:0.36MN NA NS EA CSA WA 1284
    rs1847525891,2
    --20599447(+) AGGCTC/GTCCTC 1 -- ut310--------
    rs1362001,2
    C,F,A--20599555(+) CACTCC/TTCCCC 1 -- ut31 ese3 trp36Minor allele frequency- T:0.16EA NA CSA 1740
    rs1165729761,2
    F--20599562(+) CCCCCC/TACCCC 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs1497730471,2
    --20599676(+) CACCAC/TGTGTG 1 -- ut310--------
    rs1879065381,2
    --20599728(+) TGGCAA/GACGTC 1 -- ut310--------
    rs1913107151,2
    --20599731(+) CAGACA/GTCAGG 1 -- ut310--------
    rs1844059571,2
    --20599751(+) GACTGC/TGGGGG 1 -- ut310--------
    rs1897752031,2
    C--20599826(+) CGGGGA/GCCTGC 1 -- ut310--------
    rs169966391,2
    C,F--20599839(+) TGCTCG/ACCTCA 1 -- ut31 ese33Minor allele frequency- A:0.12WA CSA 122
    rs110897871,2
    C,F,A,H--20599890(+) CTGGTC/GGCTCT 1 -- ut31 ese38Minor allele frequency- G:0.44NA WA CSA EA 369
    rs1362011,2
    C,F--20599908(+) GGCCCG/AGGCCC 1 -- ut31 ese31Minor allele frequency- A:0.01MN 184
    rs117031761,2
    C,F,A,H--20599913(+) GGGCCA/C/G/
            
    TGTCT
    3 -- ut31 ese310NS EA NA CSA WA 771
    rs1813648531,2
    C--20599958(+) GGAAGA/GGGATG 1 -- ut310--------
    rs1142680571,2
    C,F--20600014(+) GGATGG/TGGGGA 1 -- ut311Minor allele frequency- T:0.04WA 118
    rs1158693781,2
    C,F--20600015(+) GATGGG/TGGGAC 1 -- ut311Minor allele frequency- T:0.04WA 118
    rs561346111,2
    C,F--20600070(+) GGTGGG/AGAGAG 1 -- ut312Minor allele frequency- A:0.01NA EU 713
    rs1852600081,2
    C--20600141(+) TGCAGA/GAGAAG 1 -- ut310--------
    rs2014553151,2
    C--20600143(+) CAGGAG/AAAGAG 1 -- ut311Minor allele frequency- A:0.00EU 1321
    rs1495601531,2
    C--20600156(+) TTATTC/TGGCAG 2 K E mis11Minor allele frequency- T:0.00NA 4552
    rs1441794061,2
    F--20600157(+) TATTCG/AGCAGG 2 /A syn11Minor allele frequency- A:0.00NA 4552
    rs2006529841,2
    --20600177(+) AGCCCC/TATCCG 2 R G mis10--------
    rs1405880991,2
    C,F--20600216(+) ATCCCC/TGGCGC 2 R G mis12Minor allele frequency- T:0.00NA EU 5731
    rs1150313691,2
    C,F--20600219(+) CCCGGC/TGCCTT 2 T A mis12Minor allele frequency- T:0.01NA EU 5651
    rs1474093801,2
    F--20600220(+) CCGGCG/ACCTTT 2 /G syn11Minor allele frequency- A:0.00NA 4546
    rs1425657741,2
    C,F--20600246(+) GGGCAC/TGACAA 2 M V mis11Minor allele frequency- T:0.00NA 4414
    rs800505511,2
    C,F--20600253(+) ACAAAC/AGGCAG 2 /P syn13Minor allele frequency- A:0.03WA NA 4388
    rs1416865201,2
    C--20600271(+) CGCCT-/GGGGGC 1 -- int10--------
    rs1437626241,2
    C--20600350(+) CAAAGA/TGAATT 1 -- int10--------
    rs1890856671,2
    --20600469(+) TTCCCA/GCAAAA 1 -- int10--------
    rs7358541,2
    C,F,O,A,H--20600495(+) CATCTC/TCACAC 1 -- int133Minor allele frequency- N:0.00NA MN EA NS CSA WA 5150
    rs1148819611,2
    C,F--20600646(+) CACACA/GGAGTA 1 -- int11Minor allele frequency- G:0.02WA 118
    rs7358531,2
    C,F,O,A,H--20600652(+) GAGTAC/GAAAGA 1 -- int123Minor allele frequency- N:0.01NA EA NS 2118
    rs1815806341,2
    --20600869(+) ACAAAA/GATTAG 1 -- int10--------
    rs1385006741,2
    --20600882(+) GGGCAG/TAGTGG 1 -- int10--------
    rs1425524861,2
    --20600887(+) TAGTGA/GTGCAT 1 -- int10--------
    rs1860853951,2
    --20600935(+) GAATCA/GCTTGA 1 -- int10--------
    rs1909854161,2
    --20600944(+) GAACCC/TGGGAG 1 -- int10--------
    rs20083281,2
    C,F,A--20600968(+) CAAGCT/CGAGAT 1 -- int16Minor allele frequency- C:0.33NA WA CSA 12
    rs1807274731,2
    --20601008(+) AGAGCA/GAAACT 1 -- int10--------
    rs1387250571,2
    --20601030(+) AAAAAA/CAACAA 1 -- int10--------
    rs1860941471,2
    --20601031(+) AAAAAA/CACAAA 1 -- int10--------
    rs96223711,2
    C,F,A--20601076(+) AAACAT/CGTAAG 1 -- int15Minor allele frequency- C:0.21NA CSA WA EA 362
    rs7629641,2
    C,F,A,H--20601089(+) ATGAGA/TATCTC 1 -- int114Minor allele frequency- T:0.13NS EA NA WA CSA 786
    rs780471001,2
    C--20601115(+) AGAGT-/TTCAAA 1 -- int10--------
    rs58452631,2
    C--20601116(+) GAGTCT/-CAAAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1426739241,2
    --20601157(+) ATCTCA/GGAGAA 1 -- int10--------
    rs765234401,2
    F--20601247(+) CTGTAG/CGCATT 1 -- int11Minor allele frequency- C:0.03NA 120
    rs1164277171,2
    C,F--20601365(+) CTTTTA/GGGACA 1 -- int11Minor allele frequency- G:0.02WA 118
    rs2016990881,2
    --20601561(+) GGGTGA/GGCAGG 1 -- int10--------
    rs2010081021,2
    C--20601567(+) GCAGGA/GCGGCT 1 -- int10--------
    rs1507289431,2
    C--20601599(+) GAGCTA/GACTTC 2 V syn10--------
    rs1454444851,2
    C--20601632(+) TCAGTG/AGCGTC 2 /A syn11Minor allele frequency- A:0.00NA 4536
    rs1913424271,2
    --20601645(+) CCAGCC/TCGCGC 2 E G mis10--------
    rs2000296001,2
    --20601695(+) TCTTCA/GGCCTC 2 A syn10--------
    rs2016769601,2
    C--20601762(+) ATGGAA/CGTGTG 1 -- int10--------
    rs2017221341,2
    --20601777(+) GTGGCC/GCCGGT 1 -- int10--------
    rs2017679941,2
    --20601795(+) TCTGGA/GCGTGC 1 -- int10--------
    rs1139474701,2
    C--20601883(+) GCCCAG/CACCTG 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1120940731,2
    C--20601884(+) CCCACA/G/TCCTGG 1 -- spd11CSA 1
    rs2004099451,2
    --20601907(+) TCGGCA/GTTCCT 2 N syn10--------
    rs1832197931,2
    --20602142(+) TACCCA/GGCTTC 1 -- int10--------
    rs1380842391,2
    --20602150(+) TTCTTA/GCGACG 1 -- int10--------
    rs20717321,2
    C,F,H--20602151(+) TCTTAC/TGACGG 1 -- int18Minor allele frequency- T:0.05EA NS WA NA 1888
    rs734057231,2
    C,F--20602210(+) GGAAGC/TGACAC 1 -- int13Minor allele frequency- T:0.03WA NA 240
    rs1495432691,2
    --20602234(+) TCTATA/GTAACT 1 -- int10--------
    rs20717331,2
    C,F,O,H--20602262(+) GCCTAG/CTGTAA 1 -- int119Minor allele frequency- C:0.37EA NS NA WA CSA 817
    rs59952761,2
    C,F,H--20602289(+) GGAAGT/CCTCAG 1 -- int16Minor allele frequency- C:0.01NS EA CSA WA 540
    rs1175015341,2
    C,F--20602309(+) GCCCAT/CAGGAC 1 -- int11Minor allele frequency- C:0.03EA 120
    rs169966431,2
    C,F--20602312(+) CATAGG/AACAAC 1 -- int15Minor allele frequency- A:0.09NA CSA WA 252
    rs1886269001,2
    --20602357(+) CTCTGA/TTTCAC 1 -- int10--------
    rs1440257711,2
    --20602394(+) GGCTTC/TAGAGG 1 -- int10--------
    rs1995262951,2
    --20602582(+) GGGTTA/GGGCGG 1 -- int10--------
    rs563279201,2
    C,F--20602600(+) GGCACG/CTACTT 1 -- int11Minor allele frequency- C:0.01EU 1109
    rs1414407151,2
    C,F--20602709(+) GCAGCT/CTGACC 2 /K /R mis12Minor allele frequency- C:0.00NA EU 5875
    rs2014631061,2
    --20602726(+) TCCTTG/TTTCTG 2 K N mis10--------
    rs1451397081,2
    C,F--20602764(+) GTTCTT/CCTGGG 2 /K /E mis12Minor allele frequency- C:0.00NA EU 5873
    rs1904509671,2
    C--20602770(+) CTGGGC/TGTGGC 2 T A mis10--------
    rs1831051641,2
    C--20602810(+) TGGTCA/GATCTG 2 I syn10--------
    rs1460784361,2
    C--20603097(+) CGTGGC/TGGCTC 1 -- int10--------
    rs1877541551,2
    C--20603103(+) GGCTCC/TAGCCA 1 -- int10--------
    rs1133269901,2
    C--20603140(+) ACCCAC/G/TCTGCA 1 -- spd11CSA 1
    rs2010216151,2
    C--20603227(+) GATGCA/GGGCCT 2 R C mis10--------
    rs1151706751,2
    C,F--20603234(+) GCCTCC/TAGACG 2 L syn11Minor allele frequency- T:0.00NA 4150
    rs2001456301,2
    --20603315(+) CCTGGC/TCCCCC 1 -- int10--------
    rs1481093681,2
    C,F--20603355(+) TTTGCC/TGCTGC 2 S G mis12Minor allele frequency- T:0.00NA EU 5817
    rs1389987951,2
    F--20603410(+) TGGCGC/TTTGGC 2 K syn11Minor allele frequency- T:0.00NA 4490
    rs1843585921,2
    --20603414(+) GCTTGA/GCACGC 2 A V mis10--------
    rs2010221391,2
    --20603425(+) TCCGCA/GGCTGC 2 A syn10--------
    rs1118711851,2
    C--20603439(+) TTCCTC/GCCACA 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1400827371,2
    --20603716(+) GACCAC/TGTGGA 1 -- int10--------
    rs1877579141,2
    --20603740(+) GGCGGA/CCCCTC 1 -- int10--------
    rs1928906041,2
    --20603860(+) ACCTGA/GGAAAC 1 -- int10--------
    rs1506548671,2
    C--20603998(+) AGTTT-/CACACAC 1 -- int10--------
    rs1422687311,2
    --20604013(+) CACACA/TCTGAT 1 -- int10--------
    rs731655871,2
    C--20604055(+) CCTGGA/GGGGAA 1 -- int10--------
    rs1885654981,2
    --20604102(+) CTGGAA/GCCCAG 1 -- int10--------
    rs20717341,2
    C,F--20604143(+) CCCCAC/TGCTGC 1 -- int13Minor allele frequency- T:0.04NA EA EU 833
    rs130537311,2
    C,F--20604144(+) CCCACG/ACTGCC 1 -- int14Minor allele frequency- A:0.11NA EU 717
    rs559010661,2
    C--20604161(+) TGGCCA/GCAGGG 1 -- int10--------
    rs581689421,2
    C,F--20604171(+) GCAGCG/AGTGCC 1 -- int13Minor allele frequency- A:0.41WA 122
    rs1474190661,2
    C,F--20604213(+) AACTGG/TATCAT 2 I syn11Minor allele frequency- T:0.00NA 4552
    rs1381583691,2
    C,F--20604236(+) GCTCTT/CCAGCT 2 /K /E mis12Minor allele frequency- C:0.00NA EU 5843
    rs760691001,2
    C--20604252(+) TCGTTC/TTCTTT 2 E syn11Minor allele frequency- T:0.00NA 4552
    rs1486329641,2
    C--20604306(+) AGCTCG/ACGCAT 2 /R syn11Minor allele frequency- A:0.00NA 4552
    rs1420949771,2
    C,F--20604310(+) CGCGCA/GTGCAG 2 T M mis12Minor allele frequency- G:0.00NA EU 5779
    rs96104821,2
    C,F--20604992(+) GAGGCC/TGAGGC 1 -- int13Minor allele frequency- T:0.50NA 6
    rs1892716491,2
    C--20605000(+) GGCGGA/GTGGAT 1 -- int10--------
    rs1822298811,2
    C--20605098(+) CGTGCA/GCCTGT 1 -- int10--------
    rs1860785391,2
    --20605152(+) CCCGGA/GAGGCG 1 -- int10--------
    rs1893391641,2
    --20605221(+) CTCCGC/TCTCAA 1 -- int10--------
    rs589534971,2
    C,F--20605240(+) ACAAAA/CAAAAA 1 -- int11Minor allele frequency- C:0.05WA 118
    rs1809071441,2
    C--20605255(+) TTAAAC/GTAAGG 1 -- int10--------
    rs1862351531,2
    --20605280(+) TGATAC/TGGCGT 1 -- int10--------
    rs1500526721,2
    --20605339(+) GAAGAC/TTTCCA 1 -- int10--------
    rs1135564631,2
    F--20605364(+) ACTCCG/AGGCTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1169831671,2
    F--20605402(+) AGAAGG/CCTGAA 1 -- int11Minor allele frequency- C:0.01EA 120
    rs1424888691,2
    --20605513(+) GTACCC/TAGTCA 1 -- int10--------
    rs57561291,2
    C,F,A,H--20605529(+) CGTTTC/TGCAAG 1 -- int129Minor allele frequency- N:0.00NS EA NA CSA WA 2977
    rs1133133251,2
    C,F--20605537(+) AAGTTT/GGCTGT 1 -- int12Minor allele frequency- G:0.03CSA WA 120
    rs57561301,2
    C,F,A,H--20605768(+) TCGTCC/TCGGTT 2 R syn1 ese323Minor allele frequency- T:0.08NS EA NA WA EU 8169
    rs1439478281,2
    F--20605789(+) GAGTCG/AATGTG 2 /I syn11Minor allele frequency- A:0.00NA 4548
    rs22695301,2
    C,F,A,H--20605795(+) ATGTGC/AGCCTC 2 /A syn1 ese323Minor allele frequency- A:0.20NA NS EA CSA EU 8150
    rs1500299801,2
    F--20605836(+) CCGGGC/TGGCCA 2 T A mis11Minor allele frequency- T:0.00NA 4550
    rs2021323831,2
    C--20605849(+) GCCATC/TGAGCG 2 S syn10--------
    rs2012239941,2
    C--20605867(+) CTCTCA/GTCCTC 2 D syn10--------
    rs2002356771,2
    --20605910(+) AGGAAA/CATCAA 1 -- int10--------
    rs60002261,2
    C,F,H--20606004(+) GGCCTC/TGGGAA 1 -- int18Minor allele frequency- T:0.13NS EA WA CSA 516
    rs558401101,2
    C,F--20606104(+) GAGGCG/ATGGTC 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1903071361,2
    --20606114(+) CAAGGA/GGCCCT 1 -- int10--------
    rs119127631,2
    C,F,H--20606159(+) TGCGTG/AAAGCC 1 -- int111Minor allele frequency- A:0.13NS EA NA WA 1202
    rs1491690681,2
    C--20606227(+) CTGCTT/GCTTCT 2 /K /Q mis11Minor allele frequency- G:0.00NA 4552
    rs1432691951,2
    C,F--20606253(+) CGTCCC/TGGCCC 2 Q R mis12Minor allele frequency- T:0.00NA EU 5875
    rs1997229261,2
    --20606254(+) GTCCCA/GGCCCT 2 R W mis10--------
    rs1415434991,2
    C,F--20606316(+) GCAGCT/CTGGCA 2 /K /R mis12Minor allele frequency- C:0.00NA EU 5875
    rs2014055211,2
    C--20606398(+) GGCCCA/G/TCTTGG 3 R W syn1 mis10--------
    rs115499071,2
    C,F--20606417(-) GTCCAC/TGAGCT 2 H syn17Minor allele frequency- T:0.03NA NS WA EU 6175
    rs2008206771,2
    C--20606433(+) CCCCAC/GAGAGC 1 -- int10--------
    rs1996927471,2
    C--20606455(+) GCAAAC/GGGACT 1 -- int10--------
    rs1829793151,2
    C--20606487(+) GACCCA/GGAGTC 1 -- int10--------
    rs1120496601,2
    C,F--20606504(+) CACACC/TGACCC 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs1467775021,2
    C--20606517(+) TGTGAC/TGACCC 1 -- int10--------
    rs2012785141,2
    C--20606527(+) CCACTC/TGGGCC 1 -- int11Minor allele frequency- T:0.00EU 591
    rs1417505181,2
    F--20606582(+) CACATC/TATCCT 2 N D mis11Minor allele frequency- T:0.00NA 4552
    rs1505658901,2
    C,F--20606614(+) TCTCCG/ATGCGG 2 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs1492716631,2
    C,F--20606646(+) AGCTCC/TGCCTT 2 A syn12Minor allele frequency- T:0.00NA EU 5709
    rs1391347271,2
    C,F--20606729(+) AGCCCG/AGTCGC 2 /R /W mis11Minor allele frequency- A:0.00NA 4518
    rs2012482641,2
    --20606732(+) CCGGTC/TGCGCT 2 N D mis10--------
    rs1999684141,2
    --20606734(+) GGTCGC/TGCTCC 2 H R mis10--------
    rs2021274541,2
    C--20606766(+) GTCTTC/TTCCTC 2 E syn10--------
    rs1387159471,2
    --20606870(+) AGGAGC/TCCAGA 1 -- int10--------
    rs1488618541,2
    --20606879(+) GAGGCC/TACGGT 1 -- int10--------
    rs563925041,2
    C--20606896(+) GAGCAA/GGCCTA 1 -- int10--------
    rs1479910051,2
    --20606909(+) AAGCAC/TAGGCC 1 -- int10--------
    rs758833001,2
    C,F--20606920(+) CAGGGC/TTGTGC 1 -- int12Minor allele frequency- T:0.04NA EA 240
    rs1910131691,2
    --20606932(+) CAGGAA/CAATAC 1 -- int10--------
    rs1416395371,2
    --20607063(+) CGCTGC/TCCCTT 1 -- int10--------
    rs1840560791,2
    --20607083(+) CCCTCA/CAAACC 1 -- int10--------
    rs1890846451,2
    --20607143(+) TTTCAC/TGAAGT 1 -- int10--------
    rs1505820131,2
    --20607307(+) CCATGA/GGTTGC 1 -- int10--------
    rs1387619151,2
    --20607333(+) GGGCCA/TGATAG 1 -- int10--------
    rs1417034081,2
    --20607337(+) CAGATA/TGTGCA 1 -- int10--------
    rs1168197851,2
    C,F--20607359(+) ATGCAG/AGCCCT 1 -- int12Minor allele frequency- A:0.03WA NA 238
    rs1921570971,2
    --20607487(+) CGGATC/TCGGCT 1 -- int10--------
    rs14760091,2
    C,F,A,H--20607493(+) CGGCTG/ACCACA 1 -- int127Minor allele frequency- A:0.03NS EA NA WA CSA 2517
    rs60002271,2
    C,A--20607545(+) AGTCCA/GCATCC 1 -- int16Minor allele frequency- G:0.38WA CSA NA 244
    rs1829457621,2
    --20607549(+) CACATC/TCCCCT 1 -- int10--------
    rs60002281,2
    C,F,A--20607562(+) GCTGCC/TCTCAG 1 -- int15Minor allele frequency- T:0.27WA CSA 124
    rs1462554131,2
    --20607567(+) TCTCAC/GATCTT 1 -- int10--------
    rs60002291,2
    C,F,A,H--20607596(+) ATGAAT/CGCATA 1 -- int119Minor allele frequency- C:0.31NA NS EA WA CSA 2008
    rs48214771,2
    C,H--20607676(+) tgtcaC/Ttatga 1 -- int19Minor allele frequency- T:0.00NA WA CSA 251
    rs57561311,2
    C--20607720(+) GTGCAC/TGCCTG 1 -- int10--------
    rs286160241,2
    C--20607785(+) ACCACA/GGCACC 1 -- int10--------
    rs1509254261,2
    C--20607845(+) AACCCA/GAACTA 1 -- int10--------
    rs622326651,2
    C--20607963(+) GTGGCG/ATGATC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs285764311,2
    --20608046(+) CCGGCC/TGCCAC 1 -- int10--------
    rs60002301,2
    F--20608080(+) ctctgC/Tctggc 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1477345951,2
    --20608304(+) AGGAGC/TGCCTC 1 -- int10--------
    rs1918362881,2
    --20608402(+) CCGCCC/TCGTCT 1 -- int10--------
    rs3771792931,2
    C--20608527(+) CCATCC/GGGAGG 1 -- int10--------
    rs2001863971,2
    C--20608573(+) GCCCCA/GTCCGG 1 -- int10--------
    rs1842638161,2
    --20608782(+) AAGAAA/GTATAC 1 -- int10--------
    rs1891218391,2
    --20608838(+) CTTGGA/GATCTT 1 -- int10--------
    rs2015676811,2
    --20609107(+) TGTCC-/TTATGA 1 -- int10--------
    rs1469518921,2
    --20609166(+) AAAAT-/TAAAAAA 1 -- int10--------
    rs666864351,2
    C--20609167(+) AAATT-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs124840161,2
    H--20609191(+) AAAAGA/CCAGTC 1 -- int1 trp30--------
    rs1410602181,2
    C--20609287(+) CTTCCA/GCTGGC 1 -- int10--------
    rs22851111,2
    C,F--20609349(+) GGCCCC/TGCACG 1 -- int13Minor allele frequency- T:0.11EA NA 1722
    rs1932454381,2
    C--20609378(+) CCTGAA/GGGAGC 1 -- int10--------
    rs60002331,2
    C,F,H--20609399(+) TCTGAT/CGGGCC 1 -- int115Minor allele frequency- C:0.22NS EA WA CSA 1776
    rs2009774191,2
    C--20609459(+) CCAACG/AGCCAC 1 -- int11Minor allele frequency- A:0.00EU 1323
    rs2005106751,2
    --20609555(+) CTCCTC/GCTGCA 2 Q E mis10--------
    rs342923871,2
    C,F--20609588(+) CTTGTC/TGTAGG 2 N D mis12Minor allele frequency- T:0.00NA 4624
    rs1996398781,2
    --20609594(+) GTAGGC/TGGCCA 2 T A mis10--------
    rs1429576351,2
    C,F--20609595(+) TAGGCA/G/TGCCAC 3 A syn12NA EU 5873
    rs1169721831,2
    C--20609612(+) CTCGTG/ACCGCT 2 /H /Y mis12Minor allele frequency- A:0.00NA 4672
    rs763686351,2,4
    C,F--20609615(+) GTGCCG/ACTGGC 2 /R /W mis12Minor allele frequency- A:0.00NA EU 5875
    rs2006164091,2
    --20609663(+) CTCCTC/GAGCAG 2 Q E mis10--------
    rs1995069311,2
    --20609685(+) CCCACA/GCTGTC 2 S syn10--------
    rs2020339251,2
    --20609690(+) ACTGTC/GCTCCA 2 H D mis10--------
    rs2008947041,2
    --20609694(+) TCCTCC/TATCTT 2 I M mis10--------
    rs1448175921,2
    C--20609733(+) GCAAGG/TAGTAA 1 -- int10--------
    rs1854056141,2
    C--20609769(+) CAGGTA/GGCACA 1 -- int10--------
    rs1479368781,2
    --20609813(+) ACACCA/GTGGAA 1 -- int10--------
    rs1401768411,2
    --20609934(+) AGCCCA/GGGGGA 1 -- int10--------
    rs1907182991,2
    --20610004(+) TCTACA/GGAGAC 1 -- int10--------
    rs1164180721,2
    F--20610051(+) TCCACG/AGGGTC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1173656991,2
    C,F--20610109(+) GGCACG/ACTCGC 1 -- int12Minor allele frequency- A:0.05NA EA 240
    rs734057261,2
    C,F--20610143(+) GAATGG/CACTCC 1 -- int15Minor allele frequency- C:0.24WA CSA NA 244
    rs1503151571,2
    --20610216(+) AGAGCA/CGGGGC 1 -- int10--------
    rs1807329981,2
    --20610232(+) AACCAG/TATTAG 1 -- int10--------
    rs748915601,2
    F--20610243(+) GCTACG/CGACCC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1449604501,2
    --20610319(+) CATGGC/GATCAG 1 -- int10--------
    rs1854474911,2
    --20610391(+) GCCACA/GTGCTG 1 -- int10--------
    rs22397881,2
    C,F,H--20610406(+) ATAGCA/GCATCA 1 -- int15Minor allele frequency- G:0.02NS EA 538
    rs1490212701,2
    --20610522(+) CACCAC/GCATGG 1 -- int10--------
    rs1885881871,2
    --20610537(+) CTGCCC/TACATC 1 -- int10--------
    rs1814194471,2
    --20610555(+) GAAGCA/GATGCT 1 -- int10--------
    rs1446109351,2
    --20610624(+) CCCCAC/TCTAAG 1 -- int10--------
    rs2001075981,2
    --20610787(+) GAGTCC/TGGCCG 1 -- int10--------
    rs2019945531,2
    C--20610792(+) CGGCCA/GGTCCC 1 -- int10--------
    rs1479015021,2
    C,F--20610883(+) CTCCCG/AGAAGG 2 /R /W mis11Minor allele frequency- A:0.00NA 4550
    rs2012696311,2
    --20610943(+) CTGCCA/GGTTCT 2 R W mis10--------
    rs1860452211,2
    --20611183(+) GTTGCA/GTGGAC 1 -- int