Product Details

SNP ID

rs200297144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23750640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGGGGTGGAGGGAGCACCTACC[A/T]GTTGCCTGGCTCTTAGTACCCGCAG

Phenotype

MIM: 123855

Polymorphism

A/T, Transversion 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	298	Missense Mutation	CAG,CTG	Q76L	NP_001889.2

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