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EN
The mutation is a T to C transition at base pair 10,031,534 (v38) on Chromosome 8, or base pair 25,342 in the GenBank genomic region NC_000074, corresponding to nucleotide 911 in the mRNA sequence NM_033622, within exon 6 of 7 total exons. The mutation results in a methionine (M) to threonine (T) substitution at amino acid position 232 (M232T) of the protein. (J:220070)
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
