Product Details

SNP ID
rs146101365
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:148994232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTGAAACAGCACAGGACCACCA[A/G]GAGGCTGGTCGTGCTCGCCACCCCT
Phenotype
MIM: 603942
Polymorphism
A/G, Transition 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_001184720.1 331 Missense Mutation AAG,AGG K33R NP_001171649.1
NM_001184721.1 331 Missense Mutation AAG,AGG K33R NP_001171650.1
NM_004130.3 331 Missense Mutation AAG,AGG K33R NP_004121.2
XM_017006275.1 331 Intron XP_016861764.1
XM_017006276.1 331 Intron XP_016861765.1

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