Lurp

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


rs1042638

Hard Link
rs1042638 is a snp on gene CYP51A1 (cytochrome P450, family 51, subfamily A, polypeptide 1)

GeneCYP51A1 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.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs18582 (DDAH1) | rs37369 (AGXT2) | rs12487736 (SCAP) | rs2228314 (SREBF2) | rs16899974 (AGXT2) | rs2070744 (NOS3) | rs2248551 (MED23) | Rs1799983 (NOS3) | rs17622208 (SLC22A5) | rs274557 (SLC22A5) | rs274567 (SLC22A5)

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








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