Product Details

SNP ID
rs145668081
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76872925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTGGGAGGCCAGTTCTCGGCCC[A/G]GCGCCTGGGGGACTCGCCATTCACC
Phenotype
MIM: 612441
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MGAT5B PubMed Links

Gene Details

Gene
MGAT5B
Gene Name
mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199172.1 457 Missense Mutation CAG,CGG Q48R NP_001186101.1
NM_144677.2 457 Missense Mutation CAG,CGG Q48R NP_653278.2
NM_198955.1 457 Missense Mutation CAG,CGG Q59R NP_945193.1
XM_006721707.3 457 Silent Mutation CCA,CCG P34P XP_006721770.1
XM_011524350.2 457 Missense Mutation CAG,CGG Q11R XP_011522652.1
XM_011524352.2 457 Missense Mutation CAG,CGG Q48R XP_011522654.1
XM_011524354.2 457 Missense Mutation CAG,CGG Q48R XP_011522656.1
XM_017024200.1 457 Missense Mutation CAG,CGG Q48R XP_016879689.1

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