Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs4988235

Hard Link
rs4988235 is a snp on gene MCM6 (minichromosome maintenance complex component 6)

GeneMCM6 Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation C/T-13910 Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Intronic
Gene Function
The MCM6 gene provides instructions for making part of the MCM complex, a group of proteins that functions as a helicase. Helicases attach to particular regions of DNA and temporarily unwind the two spiral strands of these molecules. When a cell prepares to divide to form two cells, helicases unwind the DNA so that it can be copied. The DNA that makes up the chromosomes is duplicated (replicated) so that each new cell will get a complete set of chromosomes. Helicases are also involved in the production of RNA, a chemical cousin of DNA. A specific DNA sequence within the MCM6 gene called a regulatory element helps control the activity (expression) of a nearby gene called LCT. The LCT gene provides instructions for making an enzyme called lactase. This enzyme helps to digest lactose, a sugar found in milk and other dairy products. Lactose intolerance in adulthood is caused by gradually decreasing expression of the LCT gene after infancy, which occurs in most humans. At least four variations have been identified in the regulatory element that modulates LCT gene expression. These variations change single DNA building blocks (nucleotides) in the regulatory element. Each of the variations results in sustained lactase production in the small intestine and the ability to digest lactose throughout life. People without these changes have a reduced ability to digest lactose as they get older, resulting in the signs and symptoms of lactose intolerance. Lactose intolerance is a group of symptoms perceived after the ingestion of dairy products containing lactose, i.e. milk and fermented dairy products, characterized by excessive gas production. It causes abdominal distension, pain, borborygmi and flatulence. Excessive gas production and accumulation are strongly related to subjective symptoms. Symptoms often do not correlate to the amount of malabsorbed lactose, or to the volume or the rate of gas accumulation, but rather to altered intestinal transit and increased perception of bloating from hydrogen, carbon dioxide or methane gas production. These gases pass into the blood and are breathed out via the lungs. Expulsion of hydrogen gas can be used as an indicator of maldigested lactose. Gas production and fluid retention are the results of bacteria using the undigested lactose. This usually occurs in the small intestine in patients with dysbiosis (imbalance of gut bacteria) and small intestinal overgrowth (SIBO). For some patients complete abstinence from milk products is necessary. Correcting SIBO and dysbiosis can allow gradual reintroduction of lactose-containing products. Lactose intolerance should not be confused with milk protein allergies, which are associated with Type 1 diabetes.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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