Product Details
- SNP ID
-
rs199743631
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:121852408 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGCCTGCAGGACATCAAGAAGCCG[C/G]AACAGGACGACTGGGAAAGCGGGCT
- Phenotype
-
MIM: 608847
- Polymorphism
- C/G, 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 |
454 |
Missense Mutation |
CAA,GAA |
Q149E |
NP_803431.1 |
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