Product Details

SNP ID

rs144164912

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23877615 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAAGTAGTAGTTCACCCCACCCA[C/T]GATCTACACGCGTGGAAGAGCAGGA

Phenotype

MIM: 123858

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CST5 PubMed Links

Gene Details

Gene

CST5

Gene Name

cystatin D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001900.4	302	Missense Mutation	ATG,GTG	M79V	NP_001891.2

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