ENU-induced T to A transversion at base pair 167,451,296 (v38) on chromosome 2, or base pair 29,620 in the GenBank genomic region NC_000068 encoding Slc9a8. The mutation corresponds to residue 686 in the mRNA sequence NM_148929 within exon 8 of 17 total exons. The mutation results in a methionine (M) to lysine (K) substitution at position 215 (M215K) in the SLC9A8 protein. (J:267481)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count