Product Details

SNP ID
rs186137679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:121852594 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTCTATCAAAGAACTAGGTGAC[C/T]ACGTGCACAACTTAGTGAAGATGGG
Phenotype
MIM: 608847
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FTMT PubMed Links

Gene Details

Gene
FTMT
Gene Name
ferritin mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_177478.1 640 Missense Mutation CAC,TAC H211Y NP_803431.1

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