Product Details

SNP ID
rs138106683
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:128091383 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGGCTGCAAGGGAGACGCGAGCG[G/T]TGCGTGTGCCGCGGGTGCGCTGCCG
Phenotype
MIM: 605897
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
UGGT1 PubMed Links

Gene Details

Gene
UGGT1
Gene Name
UDP-glucose glycoprotein glucosyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020120.3 196 Missense Mutation GGT,GTT G9V NP_064505.1
XM_006712634.3 196 Missense Mutation GGT,GTT G9V XP_006712697.1
XM_006712635.3 196 Missense Mutation GGT,GTT G9V XP_006712698.1
XM_006712636.3 196 Intron XP_006712699.1
XM_017004507.1 196 UTR 5 XP_016859996.1
XM_017004508.1 196 Intron XP_016859997.1
XM_017004509.1 196 Intron XP_016859998.1
XM_017004510.1 196 Intron XP_016859999.1

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