Product Details

SNP ID
hCV90341615
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57694924 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGAGAGATGCTCCCTGCTTGCTG[A/G]AGGTGAAAGGGACTGGGTTAGATAG
Phenotype
MIM: 609677
Polymorphism
A/G, 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_001017956.2 544 Missense Mutation AAG,GAG K113E NP_001017956.1
NM_001017957.2 544 Missense Mutation AAG,GAG K113E NP_001017957.1
NM_001017958.2 544 Missense Mutation AAG,GAG K113E NP_001017958.1
NM_001261420.1 544 Missense Mutation AAG,GAG K113E NP_001248349.1
NM_001261421.1 544 Missense Mutation AAG,GAG K113E NP_001248350.1
NM_001261422.1 544 Missense Mutation AAG,GAG K113E NP_001248351.1
NM_001261423.1 544 Intron NP_001248352.1
NM_006812.3 544 Missense Mutation AAG,GAG K113E NP_006803.1

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