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A nonsynonymous G>A substitution was found at coding cDNA nucleotide 23 (c.23G>A) in exon 1 in the I/St strain. The amino-acid substitution was positioned in the cytoplasmic region of the leader sequence in the propeptide, changing amino-acid 8 from arginine to histidine (p.R8H or p.Arg8His). (J:114302)
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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References Literature
Title
PMID
Journal
Year
IF
