Product Details

SNP ID
rs201793834
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:108044830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTGCAAAACTGGTACTGGACTT[C/G]AGACGTTTGGCTAGATAAATCAAAA
Phenotype
MIM: 607649
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
OSTM1 PubMed Links

Gene Details

Gene
OSTM1
Gene Name
osteopetrosis associated transmembrane protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014028.3 1046 Silent Mutation CTC,CTG L320L NP_054747.2

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