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The G SNP at this location results in normal splicing of exon 5 and the production of normal levels of the protein. This variant has been identified in CAST/Ei and CASA/RkJ. The functional consequence is the ability to suppress the phenotype associated with Aarssti. (J:262421)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
