Lurp

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


rs2248551

Hard Link
rs2248551 is a snp on gene MED23 (mediator complex subunit 23)

GeneMED23 Chromosome number 6 Chromosome position 131603549
Alleles A/G/T Minor Allele A Minor Allele Frequency 0.2043
Notation CM000668.2:g.131603549G>A Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
The A allele of rs2248551 is reported to be associated with L-arginine measurement. The higher the number of minor alleles of rs2248551 (A) the higher the plasma concentration of l-arginine. [https://doi.org/10.1161/CIRCGENETICS.113.000264]
Gene Function
MED23 is a 'mediator' of gene replication. A SNP on this gene [rs2248551] have been associated with plasma levels of the amino acid l-argine. A gene overlapping MED23 is ARG1, which codes for 1 of 2 arginase subtypes that regulate l-arginine bioavailability.
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

NOT CURATED




GWAS Curated

NOT CURATED





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