ENU-induced G to T transversion at base pair 158,716,990 (v38) on chromosome 1, or base pair 263,534 in the GenBank genomic region NC_000067. The mutation corresponds to residue 5,267 in the mRNA sequence NM_001085376 in exon 21 of 22 total exons. The mutation results in a cysteine (C) to phenylalanine (F) substitution at position 1,756 (C1756F) in the protein. (J:234258)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count