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中文
这个是SNP rs13468707的较小变异型，位于第6外显子(c.538G>A替换，导致p.I180V)，编码出的突变型缬氨酸取代了进化保守的异亮氨酸。C变异体存在于C57BL/6NJ、AKR/J、BALB/cJ、BALB/CBYJ、DBA/2J、FVB/NJ、NOD/LTJ、NOD/ShiLtJ、NZO/HILtJ和NZW/LacJ这些品系中。这个SNP等同于已广泛记录的人类SNP rs2820949。(来源：J:193532)
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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References Literature
Title
PMID
Journal
Year
IF
