Product Details

SNP ID
rs201802999
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57696372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAGGCCCCGGGAGGCCGAGGTTC[G/T]GGTGAGTCTTGAGAGAGGGAAGTTG
Phenotype
MIM: 609677
Polymorphism
G/T, Transversion 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_001017956.2 717 Missense Mutation CGG,CTG R193L NP_001017956.1
NM_001017957.2 717 Missense Mutation CGG,CTG R193L NP_001017957.1
NM_001017958.2 717 Missense Mutation CGG,CTG R193L NP_001017958.1
NM_001261420.1 717 Missense Mutation CGG,CTG R193L NP_001248349.1
NM_001261421.1 717 Intron NP_001248350.1
NM_001261422.1 717 Intron NP_001248351.1
NM_001261423.1 717 Missense Mutation CGG,CTG R134L NP_001248352.1
NM_006812.3 717 Missense Mutation CGG,CTG R193L NP_006803.1
XM_005268581.1 717 Missense Mutation CGG,CTG R193L XP_005268638.1
XM_006719200.1 717 Missense Mutation CGG,CTG R193L XP_006719263.1
XM_006719201.1 717 Missense Mutation CGG,CTG R193L XP_006719264.1

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