rs2083249872
This variant is located in the EGLN2 gene.
▶ClinVar annotation
About EGLN2
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
View all EGLN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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