Product Details

SNP ID

rs200996939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23750650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGAGCACCTACCTGTTGCCTGG[C/T]TCTTAGTACCCGCAGCGGACGTCTG

Phenotype

MIM: 123855

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CST1 PubMed Links

Gene Details

Gene

CST1

Gene Name

cystatin SN

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001898.2	288	Missense Mutation	ACC,GCC	T73A	NP_001889.2

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