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EN
ENU-induced T to C transition at base pair 126,923,594 (v38) on chromosome 2, or base pair 9,669 in the GenBank genomic region NC_000068 encoding the gene. The mutation corresponds to residue 830 in the mRNA sequence NM_023220 within exon 6 of 15 total exons. The mutation results in a serine (S) to proline (P) substitution at position 203 (S203P) in the protein. (J:236687)
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
