Product Details

SNP ID

rs114856939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23491753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAAGACCCAAAAAAGAATGAGA[C/T]AGGGGTGCTGAGGAAATTAAAACCC

Phenotype

MIM: 608683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CST8 PubMed Links

Gene Details

Gene

CST8

Gene Name

cystatin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281730.1	471	Missense Mutation	ACA,ATA	T29I	NP_001268659.1
NM_005492.3	471	Missense Mutation	ACA,ATA	T29I	NP_005483.1

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