This mutation is a T-to-C transition in codon 118 that alters a phenylalanine residue to a serine (p.F118S) in the encoded protein. Transcript expression levels from this allele are similar to wild-type. (J:75206)
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This mutation is a T-to-C transition in codon 118 that alters a phenylalanine residue to a serine (p.F118S) in the encoded protein. Transcript expression levels from this allele are similar to wild-type. (J:75206)