Product Details

SNP ID

rs143135847

Assay Type

Functionally Tested

NCBI dbSNP Submissions

7

Location

Chr.1:231364624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACACAATTTTTTTCCATGTTTT[A/C]CATGAATAGCAATGGCAATCTTTTA

Phenotype

MIM: 606425 MIM: 616086

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

EGLN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs541569859] are located under a primer 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

EGLN1

Gene Name

egl-9 family hypoxia inducible factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022051.2	3438	UTR 3			NP_071334.1
XM_005273166.4	3438	UTR 3			XP_005273223.1
XM_005273167.4	3438	UTR 3			XP_005273224.1

Gene

SPRTN

Gene Name

SprT-like N-terminal domain

There are no transcripts associated with this gene.

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