Product Details

SNP ID

hCV8711259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:33924909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATACATCACCTTGCTTTTTTTG[G/T]GTTAAAGGGTGAGCTCATTAAAAAG

Phenotype

MIM: 606426

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EGLN3 PubMed Links

Gene Details

Gene

EGLN3

Gene Name

egl-9 family hypoxia inducible factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308103.1	1494	UTR 3			NP_001295032.1
NM_022073.3	1494	UTR 3			NP_071356.1

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