Product Details

SNP ID
rs201780073
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76872780 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCATTCGTAAAACATTTGTGCAGC[C/T]GGTACGTGGTGGAGCGTCAGGGCAC
Phenotype
MIM: 612441
Polymorphism
C/T, 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_001199172.1 134 Intron NP_001186101.1
NM_144677.2 134 Intron NP_653278.2
NM_198955.1 134 Missense Mutation CGG,TGG R11W NP_945193.1
XM_006721707.3 134 Intron XP_006721770.1
XM_011524350.2 134 Intron XP_011522652.1
XM_011524352.2 134 Intron XP_011522654.1
XM_011524354.2 134 Intron XP_011522656.1
XM_017024200.1 134 Intron XP_016879689.1

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