Product Details
- SNP ID
-
rs148056985
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:23047994 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGCCCCACGGCCGGAGGAGTCAAG[G/T]TGGAGCCGGGCGTCGGGCTGGGCGG
- Phenotype
-
MIM: 188040
- Polymorphism
- G/T, Transversion 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 |
1671 |
Missense Mutation |
AAC,ACC |
N504T |
NP_000352.1 |
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