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中文
在7号染色体位置49,917,609的单个G到A的替换，导致了密码子由atG变为atA，进而从甲硫氨酸(Met)变为异亮氨酸(Ile)。这发生在蛋白质的跨膜域，p.M278I在NP_001139485.1中，p.M2701I在NP_683733.2中。引用信息为(J:222308, J:235637)。
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
