Hard Linkrs1042638 is a snp on gene
CYP51A1 (cytochrome P450, family 51, subfamily A, polypeptide 1)
Gene
CYP51A1
Chromosome number
8
Chromosome position
80037711
Alleles
T/G/A (transliterated to +)
Minor Allele
Minor Allele Frequency
Notation
V660L
Clinical significance
Orientation (dbSNP)
- (negative/reverse strand)
SNP Function
3’ UTR, Non Coding Transcript Variant.
Gene Function
CYP51A1 is phase I detoxifying/ synthesizing enzyme. It participates in the synthesis of cholesterol by demethylating sterols such as lanosterol. The demethylated products of the CYP51 reaction are vital intermediates in pathways leading to the formation of cholesterol in humans. These sterols localize to the plasma membrane of cells, where they play an important structural role in the regulation of membrane fluidity and permeability.
