Product Details

SNP ID
rs17069215
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:108042732 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAGCTGATGGTACTCATAAAAGTAG[A/G]CATCTAAACTCAATACCTGAAAAAC
Phenotype
MIM: 607649
Polymorphism
A/G, Transition 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 3144 UTR 3 NP_054747.2

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