ENU-induced A to T transversion at base pair 15,768,025 (v38) on chromosome 16, or base pair 130,583 in the GenBank genomic region NC_000082. The mutation corresponds to residue 7,449 in the mRNA sequence NM_011159 within exon 55 of 86 total exons. The mutation results in an isoleucine (I) to phenylalanine (F) substitution at position 2476 (I2476F) in the protein. (J:255270)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count