Lurp

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


rs1056836

Hard Link
rs1056836 is a snp on gene CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1)

GeneCYP1B1 Chromosome number 2 Chromosome position 38071060
Alleles G/C (transliterated to +) Minor Allele C Minor Allele Frequency 0.3852
Notation ↑ *3 *5 *6 *7 *8 4326C>G L432V Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense mutation.
Gene Function
CYP1B1 belongs to the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by CYP1B1 detoxifies and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. CYP450 family members compete for activity, and process hormones and xenobiotics variably in patients. CYP450 family members play a much greater role in the regulation of oxidative stress due to their effects on reduction/oxidation. When upregulated, CYP1B1 is a major contributor of reactive oxygen species and a major consumer of the reducing agent NADPH, important in glutathione recycling. CYP1B1 and other CYP450 enzymes also play a major role in cell danger signaling and cell turnover, as they interact electrically with the apoptosis mechanisms controlled by mitochondria. Increased activity of this enzyme as a result of genetic variants in the CYP1B1 gene in combination with environmental factors may lead to an increased risk of breast or ovarian cancer, and affects the metabolism of certain chemotherapy agents.
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

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs4767939 () | rs2494732 (AKT1) | rs6314 (HTR2A) | rs1328674 (HTR2A) | rs6313 (HTR2A) | Rs4767939 () | Rs2494732 (AKT1) | rs2361634 () | rs2657880 () | rs4994 (ADRB3) | rs2657879 (GLS2)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs6025 (F5) | rs2569191 (CD14) | rs20541 (IL13) | rs4680 (COMT) | rs2235544 (DIO1) | rs2187668 (HLA-DQA1) | rs2075252 (LRP2)








LURP ™ IS A REGISTERED TRADEMARK ® OF DATAPUNK BIOINFORMATICS, LLC. COPYRIGHT © 2015, 2016, 2017, 2018, 2019 ALL RIGHTS RESERVED.    |    DEVELOPER BLOG     |