Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Location and effects of candidate single-nucleotide polymorphisms.
| Polymorphism | Location | Effect |
|---|---|---|
| rs1800012 | Promoter region, Sp1 binding site of COL1A1 | Influences transcription levels of α1(I) chain of type I collagen24 |
| rs12722 rs13946 |
3′ UTR of COL5A1 | Regulates mRNA stability20 |
| rs240736 rs970547 |
Coding region of COL12A1 | Missense, isoleucine → threonine27 Missense, glycine → serine27 Within C-terminal NC1 binding domain42 |
