Product Details

SNP ID
rs137945628
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:121852552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTGCGATTTCCTGGAAACCTAC[A/T]ACCTGAATGAGCAGGTGAAGTCTAT
Phenotype
MIM: 608847
Polymorphism
A/T, Transversion 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_177478.1 598 Missense Mutation AAC,TAC N197Y NP_803431.1

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