Product Details

SNP ID
rs201041421
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100540735 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGATTAATAAGCAACAGGGAAAGC[A/G]TGGCTGGGGGCAGCTTACCTCTAAC
Phenotype
MIM: 606615
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_017902.2 616 Missense Mutation CAT,CGT H177R NP_060372.2
XM_011539940.2 616 Missense Mutation CAT,CGT H197R XP_011538242.1
XM_011539941.1 616 Missense Mutation CAT,CGT H70R XP_011538243.1

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