Product Details
- SNP ID
-
rs143662783
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:26087490 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCTCCTCCTGATGCTTTTGCAGA[C/T]CGCGGTCCTGCAGGGGCGCTTGCTG
- Phenotype
-
MIM: 613609
- Polymorphism
- C/T, 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 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_000401.1 |
NM_001300749.1 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_001287678.1 |
NM_139003.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620572.1 |
NM_139004.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620573.1 |
NM_139006.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620575.1 |
NM_139007.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620576.1 |
NM_139008.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620577.1 |
NM_139009.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620578.1 |
NM_139010.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620579.1 |
NM_139011.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
NP_620580.1 |
XM_011514543.2 |
210 |
Missense Mutation |
ACC,ATC |
T17I |
XP_011512845.1 |
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