a snip is a "variation" within a specific area (base) on the gene.
Yes a SNP - single nucleotide polymorphism - is a change in a single letter of the genetic code. You are born with this variation - it is a permanent part of your DNA, something which never changes.
When this gene works right, it's helping break down B3. But in me, there appears to be a high risk it's not working right. Are you saying it wasn't working right in infancy either and wouldn't have been all these years??
Yes the variant is a permanent part of your DNA and exerts its effect throughout life.
This applies to all SNPs but you need to understand that just because a variant exists doesn't mean there is any consequence. Most variants have no effect. The ones being discussed in this thread are probably in this category since there is no research showing any effect and they are extremely common. 1 in 5 people are +/+ - so the SNPs do not cause disease.
These particular SNPs would not be doing anything different from the wildtype or ancestral gene - they are not causing problems.
You are likely to have other SNPs which do have some effect on the protein produced by the variant gene. This effect would always be present - as I said, from birth to death.
Most commonly, these effects are small and the body can usually cope, unless increased demands are made on the system.
Some variants are beneficial, the variant has a protective effect.
Rarely a SNP can have very serious consequences, such as when it completely interferes with production of the protein product of the gene. This results in disease and would be a pathogenic SNP.
