Product Details

SNP ID
rs149795669
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:128097454 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTTTGCTATAAAATGGGAGTTCT[A/G]GTTGTACTCACTGTTCTGTGGCTGT
Phenotype
MIM: 605897
Polymorphism
A/G, Transition 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_020120.3 209 Silent Mutation CTA,CTG L28L NP_064505.1
XM_006712634.3 209 Silent Mutation CTA,CTG L22L XP_006712697.1
XM_006712635.3 209 Silent Mutation CTA,CTG L28L XP_006712698.1
XM_006712636.3 209 Silent Mutation CTA,CTG L17L XP_006712699.1
XM_017004507.1 209 UTR 5 XP_016859996.1
XM_017004508.1 209 UTR 5 XP_016859997.1
XM_017004509.1 209 Intron XP_016859998.1
XM_017004510.1 209 Intron XP_016859999.1

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