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A G-to-A polymorphism at coding nucleotide 3762 (SNP rs247587933) changes codon 1254 from arginine to glutamine (p.R1254Q). This G variant (with the arginine codon) is the major allele found in the C57BL/6NJ, AKR/J, CAST/EiJ, DBA/2J, NOD/ShiLtJ, NZO/HILtJ, PWK/PhJ, SPRET/EiJ, and WSB/EiJ strains. (J:38977)
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
