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ENU-induced T to A transversion at base pair 4,339,548 (v38) on chromosome 18, or base pair 13,865 in the NC_000084 GenBank genomic region. The mutation corresponds to residue 946 in the mRNA sequence NM_008713 within exon 5 of 8 total exons. The mutation results in a serine to arginine substitution at position 274 (S274R) in the protein. (J:254880)
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
