这个等位基因包含在PWD和PWK两个菌株中发现的两种点突变:chrX:66655874A>G(SNP rs29051074的次要变异,编码第657位由asn变为ser(p.N657S)),以及66656111A>G,导致第736位由tyr变为cys(p.Y736C)(GRCm38坐标)。(来源:J:292550)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Spontaneous
核苷酸替换
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1
1
1

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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