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The waffle mutation is an A to G transition at base pair 87493221 (v38) on chromosome 7, or base pair 191 in the GenBank genomic region NC_000073 encoding Tyr. The mutation corresponds to residue 191 in the NM_011661.4 mRNA sequence in exon 1 of 5 total exons. The mutation results in a serine (S) to glycine (G) substitution at residue 44. (J:204125)
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
