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General Information
Symbol
Hsap\HNRNPA1D262V.UAS.cKa
Species
H. sapiens
Name
FlyBase ID
FBal0288451
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UAS regulatory sequences drive expression of Hsap\HNRNPA1 carrying the D262V amino acid change (pathogenic variant).

Allele components
Product class / Tool use(s)
Encoded product / tool
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
HNRNPA1:p.Asp314Val
Variants Synonym(s)
Associated human disease model(s)
    External database links
    Comments concerning this variant
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    Expression of Hsap\HNRNPA1D262V.Scer\UAS.cKa under the control of Scer\GAL4Mhc.PU causes degeneration of the indirect flight muscles.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Phenotype Manifest In
    Additional Comments
    Genetic Interactions
    Statement
    Reference
    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Comments
    Images (0)
    Mutant
    Wild-type
    Stocks (0)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (2)
    Reported As
    Symbol Synonym
    Hsap\HNRNPA1D262V.Scer\UAS.cKa
    Hsap\HNRNPA1D262V.UAS.cKa
    Name Synonyms
    Secondary FlyBase IDs
      References (2)