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A G-to-T transversion is located at nucleotide 7778 resulting in an aspartic acid to tyrosine substitution in the fifth amino acid of the conserved N-terminus of the protein (p.D5Y). This substitution has been reported in the FVB/NJ strain. (J:143901)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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 |
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References Literature
Title
PMID
Journal
Year
IF
