Product Details

SNP ID
rs28934889
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:26090921 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTTGTTTGAAGCTTTGGGCTAC[A/G]TGGATGACCAGCTGTTCGTGTTCTA
Phenotype
MIM: 613609
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HFE PubMed Links

Gene Details

Gene
HFE
Gene Name
hemochromatosis
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000410.3 317 Missense Mutation ATG,GTG M53V NP_000401.1
NM_001300749.1 317 Missense Mutation ATG,GTG M53V NP_001287678.1
NM_139003.2 317 Missense Mutation ATG,GTG M53V NP_620572.1
NM_139004.2 317 Missense Mutation ATG,GTG M53V NP_620573.1
NM_139006.2 317 Missense Mutation ATG,GTG M53V NP_620575.1
NM_139007.2 317 Intron NP_620576.1
NM_139008.2 317 Intron NP_620577.1
NM_139009.2 317 Missense Mutation ATG,GTG M30V NP_620578.1
NM_139010.2 317 Intron NP_620579.1
NM_139011.2 317 Intron NP_620580.1
XM_011514543.2 317 Missense Mutation ATG,GTG M53V XP_011512845.1

View Full Product Details