ENU-induced A to G transition at base pair 81,237,868 (v38) on chromosome 15, or base pair 2,370 in the GenBank genomic region NC_000081. The mutation corresponds to residue 1,093 in the mRNA sequence NM_145132 within exon 2 of 2 total exons. The mutation results in a tyrosine to cysteine substitution at position 273 (Y273C) in the MCHR1 protein. (J:272868)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count