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This T-to-C polymorphism at coding nucleotide 1412 (SNP rs13483926) changes codon 471 from leucine to proline (p.L471P). This is the major allele found in the 129, A/J, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, and most other 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
