Product Details
- SNP ID
-
rs201936427
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:23047982 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCCGAATGCACGAGCCCCACGGCC[A/G]GAGGAGTCAAGGTGGAGCCGGGCGT
- Phenotype
-
MIM: 188040
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
THBD
PubMed Links
Gene Details
- Gene
- THBD
- Gene Name
- thrombomodulin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000361.2 |
1683 |
Missense Mutation |
CCG,CTG |
P508L |
NP_000352.1 |
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