rs4535700

This variant is located in the NIPSNAP2 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serine measurement, amino acid measurement

Imaizumi A et al. “Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.” European Journal of Human Genetics : Ejhg 27(4):621-630 (2019)

Allele T

OR 0.34

p 4.0e-21

N 1,338

Large GWAS

East Asian

About NIPSNAP2

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

View all NIPSNAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…