Lurp

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


rs37369

Hard Link
rs37369 is a snp on gene AGXT2 (alanine--glyoxylate aminotransferase 2)

GeneAGXT2 Chromosome number 5 Chromosome position 35037010
Alleles C/T Minor Allele T Minor Allele Frequency 0.3936
Notation 35037115C>T Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
rs37369 is a SNP located in the coding region of the alanine-glyoxylate aminotransferase-2 (AGXT2) gene within chromosome 5 at position 35,072,872. This polymorphism constitues a nonsynonymous valine-to-isoleucine (V140I) substitution in the AGXT2 protein. rs37369 has been proposed by one study to be the causative SNP of hyper-beta-aminoisobutyric aciduria. TT genotypes were associated with the highest serum ADMA and SDMA 
Gene Function
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants.
GWAS Pathologies
Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Urinary metabolites (H-NMR features) (C) ~ Serum dimethylarginine levels (symmetric) (T) ~ Serum dimethylarginine levels (asymmetric/symetric ratio) (T) ~ Metabolite levels (T) ~ Urinary metabolites (T)
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

NOT CURATED




GWAS Curated

CURATED





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