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EN
This is the minor variant of SNP rs13468707 (c.538G>A substitution leading to p.I180V) in exon 6 and codes for the mutant valine in place of the evolutionary conserved isoleucine. The C variant is found in the C57BL/6NJ, AKR/J, BALB/cJ, BALB/CBYJ, DBA/2J, FVB/NJ, NOD/LTJ ,NOD/ShiLtJ, NZO/HILtJ, and NZW/LacJ strains. This SNP is the equivalent of the well-documented human SNP rs2820949. (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
