Product Details

SNP ID
rs140632100
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:128097446 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTTAGGAGTTTGCTATAAAATG[A/G]GAGTTCTGGTTGTACTCACTGTTCT
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_020120.3 201 Missense Mutation AGA,GGA R26G NP_064505.1
XM_006712634.3 201 Missense Mutation AGA,GGA R20G XP_006712697.1
XM_006712635.3 201 Missense Mutation AGA,GGA R26G XP_006712698.1
XM_006712636.3 201 Missense Mutation AGA,GGA R15G XP_006712699.1
XM_017004507.1 201 UTR 5 XP_016859996.1
XM_017004508.1 201 UTR 5 XP_016859997.1
XM_017004509.1 201 Intron XP_016859998.1
XM_017004510.1 201 Intron XP_016859999.1

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