RS1799821 information about SNP DNA

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Normal allele: GG

Carnitine palmitoyltransferase polymorphism is associated with multiple syndromes of acute encephalopathy in various infectious diseases. Genetic risk factor for common acute encephalopathy.

Polymorphism rs1799821 is related to topics like this:

CPT2 disease

A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...

Research and publications:

15811315 Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

15986317 Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

18306170 Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

20934285 Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.

21697855 Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

22809552 A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.

26874509 Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.

27156515 Multiple gene mutations identified in patients infected with influenza A (H7N9) virus.

23757202 Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

Nuclear hormone receptors

The activated ligand-regulated transcription factors collectively known as nuclear receptors...

21 hydroxylase

The CYP21A2 gene encodes the human protein, Steroid 21-hydroxylase. This enzyme hydroxylates...

Serotonin transporter sert

In humans, the SLC6A4 gene encodes a protein referred to as both the sodium-dependent serotonin...

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