link alternatif thr777 - An Overview
link alternatif thr777 - An Overview
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So this day may very well be diverse from your date of the “most recent submission” noted at the highest of this page. Support Comply with NCBI
The global slight allele frequency calculated by the a thousand Genomes Venture. The insignificant allele at this location is indicated in parentheses and will be unique in the allele represented by this VCV file.
This column contains more info supporting the classification, such as citations, the comment on classification, and specific proof provided as observations in the variant because of the submitter.
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This sequence adjust influences codon 777 with the GAA mRNA. It's really a 'silent' change, meaning that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is A part of the consensus splice website for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in folks influenced with GAA-relevant problems.
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