Product Details

SNP ID

rs146456111

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:150733109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGATTTCCTTTATTTCTTGCCAT[A/C]CGAATATATCCTTCTTCACCAAAGT

Phenotype

MIM: 116845

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CTSS PubMed Links

Gene Details

Gene

CTSS

Gene Name

cathepsin S

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199739.1	1194	Silent Mutation	CGG,CGT	R261R	NP_001186668.1
NM_004079.4	1194	Silent Mutation	CGG,CGT	R311R	NP_004070.3

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