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中文
编码 mRNA 中第115位的 A-T 点突变（c.115A>T），导致密码子39从赖氨酸变为终止密码子（p.K39*）。如果这个肽被翻译，将缺失参与鸟嘌呤核苷酸和Rab效应器结合的必需区域。（来源：J:70423）
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
