Lurp

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


rs8192708

Hard Link
rs8192708 is a snp on gene PCK1 (phosphoenolpyruvate carboxykinase 1 (soluble))

GenePCK1 Chromosome number 20 Chromosome position 57563565
Alleles A/G Minor Allele G Minor Allele Frequency 0.0577
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized.
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

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs1143684 (NQO2) | rs2071002 (LOC105374888) | rs2283725 (MAOA) | rs2129785 (BLMH) | rs686 (DRD1) | rs4532 (DRD1) | rs8192708 (PCK1) | rs2069812 (IL5) | rs1143634 (IL1B) | rs10402876 (C3) | rs104894226 (HRAS)

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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