Product Details

SNP ID

rs112589589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23491894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTCAAGACACTGCAAGCCCAGC[C/T]TCAGGTAAAGGTGTCTTTCCATATA

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	612	Missense Mutation	CCT,CTT	P76L	NP_001268659.1
NM_005492.3	612	Missense Mutation	CCT,CTT	P76L	NP_005483.1

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