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EN
The snowflake mutation corresponds to a C-to-T transition at nucleotide position 1506, in the 14th of 24 total exons, resulting in replacement of proline by leucine at amino acid 459 of the protein (P458L), in a highly conserved lumenal segment between the 5th and 6th transmembrane domains. (J:133621)
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
