Product Details

SNP ID
rs142729279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:23877595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTTCGACCGAACTTCACATTGAA[A/G]TAGTAGTTCACCCCACCCACGATCT
Phenotype
MIM: 123858
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CST5 PubMed Links

Gene Details

Gene
CST5
Gene Name
cystatin D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001900.4 322 Silent Mutation TAC,TAT Y85Y NP_001891.2

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