ENU-induced T to A transversion at base pair 43,411,386 (v38) on chromosome 7, or base pair 3,194 in the GenBank genomic region NC_000073 within intron 6 (28-base pairs from exon 7). The effect of the mutation at the cDNA and protein levels has not been examined. (J:265185)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count