Product Details

SNP ID

rs148004300

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23826533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAAAGTGAAGGGCACGCTGTACC[C/T]GCTCATCATTGAGGTCTGCATCATA

Phenotype

MIM: 123856

Polymorphism

C/T, Transition 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	143	Missense Mutation	CAG,CGG	Q43R	NP_001313.1

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