Product Details

SNP ID

rs190892496

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:150799242 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCAAAACTGCATGGTTCAGATT[A/T]TCGCTATTGCAGCTTTCATCATAAT

Phenotype

MIM: 601105

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CTSK PubMed Links

Gene Details

Gene

CTSK

Gene Name

cathepsin K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000396.3	1045	Missense Mutation	GAA,GAT	E272D	NP_000387.1

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