Lurp

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


rs70991108

Hard Link
rs70991108 is a snp on gene DHFR (dihydrofolate reductase)

GeneDHFR Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation 19bp insertion 86+59_86+60insACCTGGGCGGGACGCGCCA Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Indel
Gene Function
DHFR  is an important enzyme in nucleic and amino acid synthesis and an extensively studied drug target over the past 50 years. It converts dihydrofolate (a form of folic acid) into tetrahydrofolate, an 'active' form of folic acid required for the synthesis of purines, thymidylic acid, and certain amino acids. Tetrahydrofolic acid is a cofactor in many reactions, especially in the metabolism of amino acids and nucleic acids. It acts as a donor of a group with one carbon atom. It gets this carbon atom by sequestering formaldehyde produced in other processes. The conversion of dihydrofolic acid to tetrahydrofolic acid by DHFR ultimately allows for the creation of 5-MTHF, the primary biologically active form of folate used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine. Methotrexate and sulfa-containing drugs like sulfamethoxazole and trimethoprim (brand name Septra or Bactrim) or sulfasalazine, or triamterene (found in Dyazide) inhibit DHFR. Unmetabolized synthetic folic acid also inhibits DHFR. Intakes of synthetic folic acid higher than the Tolerable Upper Intake Level (1.0 mg), whether from a combination of supplements and fortified foods, or from high dose synthetic folic acid administered for therapeutic purposes, will considerably increase exposure to circulating unmetabolized folic acid. 
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs6316 () | rs6295 (HTR1A) | rs34116584 (AGXT) | rs41307258 (TBX22) | rs6993813 () | rs1495741 (NAT2) | rs10046 (CYP19A1) | rs1801198 (TCN2) | rs17036170 (PPARG) | rs2908004 () | Rs17036170 (PPARG)

MOST FREQUENTLY SEARCHED:
rs429358 (APOE) | rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs4680 (COMT) | rs6025 (F5) | rs20541 (IL13) | rs2569191 (CD14) | rs2235544 (DIO1) | rs2187668 (HLA-DQA1)








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