Product Details

SNP ID
rs113839463
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:63893534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAAGCTACATCTGCTGTGACCA[A/G]CCTAAATAATGGAGAGAAAATTATT
Phenotype
MIM: 191760 MIM: 614633
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UGP2 PubMed Links

Gene Details

Gene
UGP2
Gene Name
UDP-glucose pyrophosphorylase 2
There are no transcripts associated with this gene.

Gene
VPS54
Gene Name
VPS54, GARP complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005739.1 2957 Silent Mutation CTG,TTG L932L NP_001005739.1
NM_016516.2 2957 Silent Mutation CTG,TTG L944L NP_057600.2
XM_006712029.3 2957 Silent Mutation CTG,TTG L908L XP_006712092.1
XM_017004316.1 2957 Silent Mutation CTG,TTG L826L XP_016859805.1

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