Product Details

SNP ID

rs146367075

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:231370634 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGAAAAACAGCAGTCTATCAAAT[C/T]TGGGTTCAATGTCAGCAAACTGGGC

Phenotype

MIM: 606425

Polymorphism

C/T, Transition 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	1514	Missense Mutation	AAA,AGA	K359R	NP_071334.1
XM_005273166.4	1514	Missense Mutation	AAA,AGA	K359R	XP_005273223.1
XM_005273167.4	1514	Intron			XP_005273224.1

View Full Product Details