Oca2^p-6Btlr

The molecular lesion is a T to A transversion at base pair 56,535,968 (v38) on chromosome 7, or base pair 296,376 in the GenBank genomic region NC_000073. This corresponds to nucleotide 2,571 of the mRNA sequence NM_021879 within exon 4 of 24 total exons. The mutation results in a methionine (M) to lysine (K) substitution at position 814 (M814K) in the OCA2 protein. (J:215820)