Browse Teach Curate

Why Most Sequence Variants Fall Outside Protein-Coding Exons

Protein-coding sequence is a tiny fraction of the genome, so almost every association hit lands outside it. This node sets the expectation that a non-coding location is the normal case and a coding change is the exception worth remarking on.

Questions this Concept answers

Why do most sequence differences between people fall outside protein-coding exons?

jeremy Text

Human genome

The page describes the composition of the human genome: roughly 3.1 billion base pairs, 19,000-20,000 protein-coding genes whose exonic coding sequence totals only about 1-2% of the genome, leaving 9…