Product Details

SNP ID
rs200911714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133153733 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGACGGTTCAGGTGGCTTTCCTC[C/T]CGCCAGGCAGCCATGATGCCATTGG
Phenotype
MIM: 606074 MIM: 601619
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GBGT1 PubMed Links

Gene Details

Gene
GBGT1
Gene Name
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282629.1 1237 Missense Mutation GAG,GGG E290G NP_001269558.1
NM_001282632.1 1237 Silent Mutation CGA,CGG R279R NP_001269561.1
NM_001288572.1 1237 Silent Mutation CGA,CGG R249R NP_001275501.1
NM_001288573.1 1237 Silent Mutation CGA,CGG R160R NP_001275502.1
NM_021996.5 1237 Silent Mutation CGA,CGG R296R NP_068836.2
Gene
RALGDS
Gene Name
ral guanine nucleotide dissociation stimulator
There are no transcripts associated with this gene.

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