Product Details

SNP ID
rs200506017
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:23826508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGGCCTTGTTATACTCGCTGAT[G/T]ACAAAGTGAAGGGCACGCTGTACCC
Phenotype
MIM: 123856
Polymorphism
G/T, Transversion 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_001322.2 168 Silent Mutation GTA,GTC V51V NP_001313.1

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