Product Details

SNP ID

rs1867784

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46307081 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAGTTAAAAAAGCACTCCAGTGAGA[C/T]TGCTTTCGCAGTAAGTTTCTGTAAA

Phenotype

MIM: 603349

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EPAS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs79259818] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

View Full Product Details