ACTN3
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
- Chromosome
- 11
- Start
- 66,546,395
- End
- 66,563,334
- Build
- HG19
Associated SNPs 1 / 1 detected
| SNP | Genotype | Ref. allele | Variant allele | Frequency | Status |
|---|---|---|---|---|---|
| rs1815739 | CT | T | C | 59.92% | Detected |