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中文
在16号染色体的v38(enu诱导的A到T转换，位置19,957,139)或NC_000082基因组区域的25,911号碱基，这个变异。这个变异对应于NM_183390 mRNA序列中第714位的氨基酸，位于7个总exons的第3个exon。这个变异导致KLHL6蛋白中精氨酸(Asp，D)变为缬氨酸(Val，V)的替换，即D223V。(引用：J:265168)
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
