Product Details

SNP ID
rs201253545
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:162566217 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGAGGAGCTGAACTTCTTTTTCC[A/G]AAAGGCCATTGAAGGTTTTAACCAG
Phenotype
MIM: 602862
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UAP1 PubMed Links

Gene Details

Gene
UAP1
Gene Name
UDP-N-acetylglucosamine pyrophosphorylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324113.1 429 Missense Mutation CAA,CGA Q50R NP_001311042.1
NM_001324114.1 429 Missense Mutation CAA,CGA Q50R NP_001311043.1
NM_001324115.1 429 Missense Mutation CAA,CGA Q50R NP_001311044.1
NM_001324116.1 429 Missense Mutation CAA,CGA Q50R NP_001311045.1
NM_001324117.1 429 Missense Mutation CAA,CGA Q50R NP_001311046.1
NM_003115.4 429 Missense Mutation CAA,CGA Q50R NP_003106.3
XM_011509913.2 429 Missense Mutation CAA,CGA Q50R XP_011508215.1
XM_011509914.2 429 Missense Mutation CAA,CGA Q50R XP_011508216.1

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