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EN
ENU-induced T to C transition at base pair 36,779,173 (v38) on chromosome 1, or base pair 17,376 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,102 in the mRNA sequence NM_001289766 within exon 2 of 13 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 314 (Y314H) in the protein. (J:254832)
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
