Product Details

SNP ID
rs104894644
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43755612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGTCGGGCCCACTAGGTCGCCA[C/T]CACTTGCCGCGGCCGATGGCGTTGG
Phenotype
MIM: 605740
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SOST PubMed Links

Gene Details

Gene
SOST
Gene Name
sclerostin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025237.2 419 Nonsense Mutation TGA,TGG *124W NP_079513.1

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