SNP rs32756904在exon 14包含T变异,形成一个新型的剪接供位点。这导致的转录本在第619位有一个氨基酸替换(p.R619S),并产生错义剪接,删除了exon 14编码序列的最后5个碱基。这个SNP存在于129S1/SvImJ、C3H/HeJ、DBA/2J和KK/HlJ小鼠中。(来源:J:33253, J:133936)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
various
Spontaneous
未定义
隐性
1
7
8

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

References Literature

Title
PMID
Journal
Year
IF
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