Product Details

SNP ID

rs142524858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46306799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGATTTTAAAAATCACATATAT[C/T]AAATATATGGGGAAATGAGACACAA

Phenotype

MIM: 603349

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPAS1 PubMed Links

Gene Details

Gene

EPAS1

Gene Name

endothelial PAS domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001430.4		Intron			NP_001421.2
XM_011532698.2		Intron			XP_011531000.1

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