Product Details

SNP ID
rs74154666
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100526499 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATACACATGACATGCCAAGAAACA[C/G]GTGTGGGGGATGTATCCACACGGTT
Phenotype
MIM: 606615 MIM: 602140 MIM: 610258
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HIF1AN PubMed Links

Gene Details

Gene
HIF1AN
Gene Name
hypoxia inducible factor 1 alpha subunit inhibitor
There are no transcripts associated with this gene.

Gene
NDUFB8
Gene Name
NADH:ubiquinone oxidoreductase subunit B8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284367.1 440 Missense Mutation CCT,CGT P123R NP_001271296.1
NM_001284368.1 440 Intron NP_001271297.1
NM_005004.3 440 Missense Mutation CCT,CGT P123R NP_004995.1
Gene
SEC31B
Gene Name
SEC31 homolog B, COPII coat complex component
There are no transcripts associated with this gene.

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