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EN
The mutation is an A to G transition at base pair 140,906,767 (v38) on chromosome 5, or base pair 93,830 in the GenBank genomic region NC_000071. The mutation corresponds to residue 863 in the mRNA sequence NM_175362 within exon 5 of 25 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at position 181 (Y181C) (J:221487)
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
