SNP rs33645709, a spontaneously arising C-to-A point mutation identified in DBA/2J, causes a proline to threonine mutation at amino acid position 77 (p.P77T) in the second transmembrane domain near the cytoplasmic side. (J:224677)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count