Product Details

SNP ID

rs140171051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100536051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGCCCCGCCTGGGATGAATCCCA[A/G]TTGCGCAGTTATAGCTTCCCGACTA

Phenotype

MIM: 606615 MIM: 602140

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HIF1AN PubMed Links

Gene Details

Gene

HIF1AN

Gene Name

hypoxia inducible factor 1 alpha subunit inhibitor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017902.2	119	Silent Mutation	CAA,CAG	Q31Q	NP_060372.2
XM_011539940.2	119	Silent Mutation	CAA,CAG	Q31Q	XP_011538242.1
XM_011539941.1	119	Intron			XP_011538243.1

Gene

NDUFB8

Gene Name

NADH:ubiquinone oxidoreductase subunit B8

There are no transcripts associated with this gene.

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