ENU-induced A to G transition at base pair 36,782,517 (v38) on chromosome 1, or base pair 20,720 in the GenBank genomic region NC_000067 encoding Zap70. The mutation corresponds to residue 1,952 in the mRNA sequence NM_001289766 within exon 13 of 13 total exons. The mutation results in a tyrosine to cysteine substitution at position 597 (Y597C) in the ZAP70 protein. (J:272864)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count