Product Details

SNP ID

rs140289617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23826499 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCATCTTCAGTGGCCTTGTTATA[C/T]TCGCTGATGACAAAGTGAAGGGCAC

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	177	Silent Mutation	GAA,GAG	E54E	NP_001313.1

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