Product Details
- SNP ID
-
rs146601403
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:23750769 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCATTGAGGTCTGCGTTATAGATG[C/T]CACCCGGGATTATCCTATCCTCCTC
- Phenotype
-
MIM: 123855
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CST1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs2070856] are located under a probe and SNP(s) [rs6076122] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- CST1
- Gene Name
- cystatin SN
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001898.2 |
169 |
Missense Mutation |
GAC,GGC |
D33G |
NP_001889.2 |
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