Product Details

SNP ID
rs112781848
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46297084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGGCGACTGGCGAGCCATGGCGC[A/T]GGGGCTGCAGCGCGCAAGGTACTGA
Phenotype
MIM: 609976
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
HIF3A PubMed Links

Gene Details

Gene
HIF3A
Gene Name
hypoxia inducible factor 3 alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022462.4 35 Intron NP_071907.4
NM_152794.3 35 Intron NP_690007.1
NM_152795.3 35 Missense Mutation CAG,CTG Q3L NP_690008.2
NM_152796.2 35 Intron NP_690009.1
XM_005259152.4 35 Missense Mutation CAG,CTG Q3L XP_005259209.1
XM_005259153.3 35 Intron XP_005259210.2
XM_005259155.4 35 Missense Mutation CAG,CTG Q3L XP_005259212.1
XM_005259156.4 35 Missense Mutation CAG,CTG Q3L XP_005259213.1
XM_017027132.1 35 Missense Mutation CAG,CTG Q3L XP_016882621.1
XM_017027133.1 35 Missense Mutation CAG,CTG Q3L XP_016882622.1
XM_017027134.1 35 Missense Mutation CAG,CTG Q3L XP_016882623.1
XM_017027135.1 35 Intron XP_016882624.1
XM_017027136.1 35 Missense Mutation CAG,CTG Q3L XP_016882625.1
XM_017027137.1 35 Intron XP_016882626.1
XM_017027138.1 35 Missense Mutation CAG,CTG Q3L XP_016882627.1
XM_017027139.1 35 Intron XP_016882628.1
XM_017027140.1 35 UTR 5 XP_016882629.1
XM_017027141.1 35 Intron XP_016882630.1
XM_017027142.1 35 Intron XP_016882631.1

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