ENU-induced G to A transversion at base pair 66,671,396 (v38) on chromosome 15, or base pair 641 in the GenBank genomic region NC_000081. The mutation corresponds to residue 180 in the NM_009375 mRNA sequence in exon 2 of 48 total exons. The mutation results in substitution of cysteine 53 to a tyrosine (C53Y) in the protein. (J:236669)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count