Version: 8.0.0
Date: Tue Jan 28 2025
Slc22a5jvs
MGI:1856926
Allele of Slc22a5
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Slc22a5jvs

Species
Mus musculus
Symbol
Slc22a5jvs
Category
allele
Allele of gene
Slc22a5
Transgenic Constructs
None
Synonyms
  • jvs
  • Octn2 -
Description
A transversion point mutation from CTG (Leu) to CGG (Arg) at codon 352 (p.L352R) located within the sixth transmembrane domain. This amino acid replacement possibly causes the conformational change of the protein that leads to dysfunction of the gene product.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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