Product Details

SNP ID

rs191867

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:231364176 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACAATTTAAGACCTGTCTGGCAA[C/G]CACAACCCACAGATAGTAGAATCTA

Phenotype

MIM: 606425 MIM: 616086

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EGLN1 PubMed Links

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	3886	UTR 3			NP_071334.1
XM_005273166.4	3886	UTR 3			XP_005273223.1
XM_005273167.4	3886	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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