Product Details

SNP ID

rs201148660

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:150733130 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCCGAATATATCCTTCTTCACC[A/G]AAGTTGTGGCCCCAGCTTTAGAAAA

Phenotype

MIM: 116845

Polymorphism

A/G, Transition 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	1173	Silent Mutation	TTC,TTT	F254F	NP_001186668.1
NM_004079.4	1173	Silent Mutation	TTC,TTT	F304F	NP_004070.3

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