Product Details

SNP ID
rs148161041
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:39503970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTTAGCATTTTTTTATGAATGC[A/G]TTCATAATCCAATTCCTGTAAAGAC
Phenotype
MIM: 603370
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UGDH PubMed Links

Gene Details

Gene
UGDH
Gene Name
UDP-glucose 6-dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184700.1 1602 Missense Mutation CGC,TGC R360C NP_001171629.1
NM_001184701.1 1602 Missense Mutation CGC,TGC R330C NP_001171630.1
NM_003359.3 1602 Missense Mutation CGC,TGC R427C NP_003350.1
XM_005262667.2 1602 Missense Mutation CGC,TGC R440C XP_005262724.1

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