ENU-induced G to T transversion at base pair 102,865,370 (v38) on chromosome 2, or base pair 36,300 in the GenBank genomic region NC_000068 encoding Cd44. The mutation corresponds to residue 475 in the mRNA sequence NM_009851 within exon 2 of 19 total exons. The mutation results in a glutamic acid (E) to aspartic acid (D) substitution at position 52 (E52D) in the CD44 protein. (J:267483)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count