Log In|Sign Up
中文
在19号染色体16,133,123位点(GRCh38)的这个自发的G到A转换，导致了exon 2的剪接接受体位点从CAG变成了CAA，这理论上会产生一个无功能的等位基因，但并未通过转录或蛋白分析来确认这一点(文献J:222308)。
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
