Lurp

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


rs274557

Hard Link
rs274557 is a snp on gene SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5)

GeneSLC22A5 Chromosome number 5 Chromosome position 132385512
Alleles T/C (transliterated to +) Minor Allele C Minor Allele Frequency 0.486
Notation Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
  Mutations in the SLC22A5 gene can result in an absent or dysfunctional OCTN2 protein, a mitochondrial fatty acid transporter. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the heart, liver, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.
GWAS Pathologies
Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) (T)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





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