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Molecular analysis revealed that a GA-to-TT substitution at positions 1910 and 1911 had occurred. This is predicted to result in a glutamine to histidine amino acid substitution at position 511 and a lysine to stop codon subsitution at position 512. (J:50909)
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 |
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References Literature
Title
PMID
Journal
Year
IF
