Product Details

SNP ID
rs200411252
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57696315 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCTTAAACGCTACCACAGCCAGA[C/T]CTATGGCAATGGGTCCAAGTGCGAC
Phenotype
MIM: 609677
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OS9 PubMed Links

Gene Details

Gene
OS9
Gene Name
OS9, endoplasmic reticulum lectin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017956.2 660 Missense Mutation ACC,ATC T174I NP_001017956.1
NM_001017957.2 660 Missense Mutation ACC,ATC T174I NP_001017957.1
NM_001017958.2 660 Missense Mutation ACC,ATC T174I NP_001017958.1
NM_001261420.1 660 Missense Mutation ACC,ATC T174I NP_001248349.1
NM_001261421.1 660 Intron NP_001248350.1
NM_001261422.1 660 Intron NP_001248351.1
NM_001261423.1 660 Missense Mutation ACC,ATC T115I NP_001248352.1
NM_006812.3 660 Missense Mutation ACC,ATC T174I NP_006803.1
XM_005268581.1 660 Missense Mutation ACC,ATC T174I XP_005268638.1
XM_006719200.1 660 Missense Mutation ACC,ATC T174I XP_006719263.1
XM_006719201.1 660 Missense Mutation ACC,ATC T174I XP_006719264.1

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