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T to A transversion at base pair 77,948,299 (v38) on chromosome 18, or base pair 9,892 in the GenBank genomic region NC_000084. The mutation corresponds to residue 243 (c.243T>A) in the mRNA sequence NM_001195633.2 within exon 2 of 44 total exons. The mutation results in substitution of cysteine 70 for a premature stop codon (p.C70*) in the EPG5 protein. (J:272115)
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
