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The woolly mutation comprises a T to C transition at nucleotide position 87975 of the genomic DNA sequence (Genbank genomic region NC_000067 for linear genomic DNA sequence of Sgk3), in the 16th of the gene's 19 exons. The mutated base corresponds to nucleotide 1382 of transcript variant 1, Genbank record: NM_133220. The mutation is predicted to result in replacement of the cysteine at amino acid position 246, in the kinase domain, by arginine (C246R). (J:156584)
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
