Product Details
- SNP ID
-
rs201314432
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:26103983 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCGGCAAAGGCGGAAAAGGCTTGGG[G/T]AAGGGTGGTGCTAAGCGCCATCGTA
- Phenotype
-
MIM: 613609
MIM: 142712
MIM: 602827
- Polymorphism
- G/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
HFE
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs147057053] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- HFE
- Gene Name
- hemochromatosis
There are no transcripts associated with this gene.
- Gene
- HIST1H1T
- Gene Name
- histone cluster 1, H1t
There are no transcripts associated with this gene.
- Gene
- HIST1H4C
- Gene Name
- histone cluster 1, H4c
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_003542.3 |
36 |
Silent Mutation |
GGG,GGT |
G12G |
NP_003533.1 |
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