Product Details

SNP ID
rs148954947
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:148994189 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAAACGATGCCTACGCCAAAGGT[G/T]CCCTGGTCCTGGGATCATCTCTGAA
Phenotype
MIM: 603942
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
GYG1 PubMed Links

Gene Details

Gene
GYG1
Gene Name
glycogenin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184720.1 288 Missense Mutation GCC,TCC A19S NP_001171649.1
NM_001184721.1 288 Missense Mutation GCC,TCC A19S NP_001171650.1
NM_004130.3 288 Missense Mutation GCC,TCC A19S NP_004121.2
XM_017006275.1 288 Intron XP_016861764.1
XM_017006276.1 288 Intron XP_016861765.1

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