Product Details
- SNP ID
-
rs142646483
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:23826521 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATACTCGCTGATGACAAAGTGAAGG[A/G]CACGCTGTACCCGCTCATCATTGAG
- Phenotype
-
MIM: 123856
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CST2
PubMed Links
Gene Details
- Gene
- CST2
- Gene Name
- cystatin SA
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001322.2 |
155 |
Missense Mutation |
GCC,GTC |
A47V |
NP_001313.1 |
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