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SNP information rs74315298

RS74315298

Normal allele: CC

Mutations of the CPT2 gene resulting in fatal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Polymorphism rs74315298 is related to topics like this:

CPT2 disease

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


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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