Product Details

SNP ID

rs201625246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23491705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTGGCTCTCCCTGATCCTCCTCA[C/T]CATTCCCCTGGCCCTGGTGGCCAGG

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	423	Missense Mutation	ACC,ATC	T13I	NP_001268659.1
NM_005492.3	423	Missense Mutation	ACC,ATC	T13I	NP_005483.1

View Full Product Details