Product Details
- SNP ID
-
rs138657343
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.18:31591916 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTCTTGGCAGGATGGCTTCTCATC[A/G]TCTGCTCCTCCTCTGCCTTGCTGGA
- Phenotype
-
MIM: 176300
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TTR
PubMed Links
Gene Details
- Gene
- TTR
- Gene Name
- transthyretin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000371.3 |
150 |
Missense Mutation |
CAT,CGT |
H5R |
NP_000362.1 |
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