This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison.
The COL5A1 gene
In humans, COL5A1 is found on the long arm of chromosome 9. A figure of its location on the chromosome is shown below where the yellow arrow is directed. The COL51A gene is located between positions 34.2 and 34.3, or more specifically from base pair 134,641,785 to base pair 134,844,842 (1).
The variant: rs12722
A single nucleotide polymorphism (SNP) is believed to be the cause of the this enhanced running economy. The location of this mutation is at base pair 134,842,570. This is in the 3' untranslated region (3' UTR). The difference between rs12722 and COL5A1 is the normal cytosine base becomes a thymine. For more information, check on SNPedia regarding this specific SNP (2).
References
- (2006) COL5A1 gene. Genetics Home Reference. http://ghr.nlm.nih.gov/gene/COL5A1
- http://www.snpedia.com/index.php/Rs12722
Website Author: Logan Silber
Contact email: [email protected]
Page last updated: 3/25/2015
Course Homepage: www.genetics564.weebly.com
Contact email: [email protected]
Page last updated: 3/25/2015
Course Homepage: www.genetics564.weebly.com