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Analysis of cDNA showed this allele comprises a C-to-T transition at nucleotide 2504 (transcript NM_021099) in the tyrosine kinase domain, resulting in a change of alanine to valine at position 835 (p.A835V). Encoded c-kit protein is not expressed on the cell surface. (J:27513)
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
