Product Details

SNP ID
rs146063314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:23605677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACAGCCTGTAGGCATGCTCCTCC[C/T]TGCTCTGCACGTTGAAAGTGTTCAA
Phenotype
MIM: 616543
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CST9 PubMed Links

Gene Details

Gene
CST9
Gene Name
cystatin 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008693.2 297 Missense Mutation AAG,AGG K63R NP_001008693.2

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