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中文
基因组序列分析表明，这种突变是由c.5518C>T的转换引起的，这在谷氨酰胺1840位置引入了一个早发终止密码子(p.Q1840*)。mRNA水平没有显著变化，但蛋白质水平大幅降低。(来源：J:47547)
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
