Product Details

SNP ID

rs375958814

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:150796855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCCACAGGCGTTGTTCTTATTTC[C/G]AGCCATGAGGATATATCCTTTGTTT

Phenotype

MIM: 601105

Polymorphism

C/G, 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	1163	Missense Mutation	CGA,GGA	R312G	NP_000387.1

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