EPAS1

OMIMHGNC

Synonym(s): MOP2, PASD2, HIF2A, HLF, bHLHe73

Locus: 2p21-p16

Protein: Putative uncharacterized protein EPAS1

 

Disorders

Tests

Test
Familial Erythrocytosis 4
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Hereditary Erythrocytosis Panel Test
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA