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EN
ENU-induced G to A transition at base pair 94,403,445 (v38) on chromosome 15, or base pair 61,983 in the GenBank genomic region NC_000081. The mutation corresponds to residue 458 in the mRNA sequence NM_177431 (isoform 1) within exon 2 of 39 total exons and residue 458 in the mRNA sequence NM_00164785 (isoform 2) within exon 2 of 28 total exons. The mutated nucleotide is indicated in red. The mutation results in an arginine (R) to histidine (H) substitution at position 66 (R66H) in both protein variants. (J:234249)
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
