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A T-to-C transition in the 40th nucleotide from the start codon c.40T>C results in a change from cysteine to arginine at amino acid 14 (p.C14R), which is in the signal peptide region and although transcript is found at normal levels the protein is absent from NK cells. (J:257226)
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
