ENU-induced C to T transition at base pair 74,624,284 (v38) on chromosome 10, or base pair 1,524,257 in the GenBank genomic region NC_000076 for the gene. The mutation corresponds to residue 4,499 in the mRNA sequence NM_023115 (variant A) within exon 31 of 35 total exons. The mutation results in an arginine (R) to tryptophan (W) substitution at position 1,360 (R1360W) in the protein. (J:236676)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count