ENU-induced A to C transversion at base pair 21,998,266 (v38) on chromosome 8, or base pair 61,809 in the GenBank genomic region NC_000074. The mutation corresponds to residue 3,668 in the NM_007511 mRNA sequence in exon 17 of 21 total exons. The mutation results in a threonine (T) to proline (P) substitution at position 1,217 (T1217P) in the protein. (J:255002)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count