Product Details
- SNP ID
-
rs200236513
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:43774669 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCCCACACTCTACCTTGATGAAGT[A/G]GTTTGTCCCCGCGACCACCTGGCTC
- Phenotype
-
MIM: 601145
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CSTB
PubMed Links
Gene Details
- Gene
- CSTB
- Gene Name
- cystatin B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000100.3 |
263 |
Missense Mutation |
CAC,TAC |
H53Y |
NP_000091.1 |
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