Product Details

SNP ID
rs139923243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:34366807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCAAGTCCAGGGGCGTGGAGGCC[A/G]CCCGGGAGCGGATGTTCAATGGTGA
Phenotype
MIM: 172400
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GPI PubMed Links

Gene Details

Gene
GPI
Gene Name
glucose-6-phosphate isomerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184722.1 295 Intron NP_001171651.1
NM_001289789.1 295 Intron NP_001276718.1
XM_005258764.2 295 Missense Mutation ACC,GCC T80A XP_005258821.1
XM_006723148.2 295 Missense Mutation ACC,GCC T80A XP_006723211.1
XM_011526754.2 295 Missense Mutation ACC,GCC T119A XP_011525056.1

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