A transition point mutation resulted in a glycine to glutamic acid substitution at position 304 (G304E). The substitution is within the tyrosine kinase binding domain (TKB). (J:81965)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count