Product Details

SNP ID

rs143991968

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:231370597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTGGTTGTACTTCATGAGGGTT[A/G]CGACGGTCAGACCAGAAAAACAGCA

Phenotype

MIM: 606425

Polymorphism

A/G, 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	1551	Silent Mutation	CGC,CGT	R371R	NP_071334.1
XM_005273166.4	1551	Silent Mutation	CGC,CGT	R371R	XP_005273223.1
XM_005273167.4	1551	Intron			XP_005273224.1

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