Product Details

SNP ID
rs143294706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:210009729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCGAAAGCAGCTAGGCCAGGACCC[A/T]TTCTTTGGTAAGTGGGTGTTACGCC
Phenotype
MIM: 180480
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
RPE PubMed Links

Gene Details

Gene
RPE
Gene Name
ribulose-5-phosphate-3-epimerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278282.1 281 Intron NP_001265211.1
NM_001278283.1 281 UTR 5 NP_001265212.1
NM_001278285.1 281 Silent Mutation CCA,CCT P65P NP_001265214.1
NM_001278286.1 281 Intron NP_001265215.1
NM_001278288.1 281 Intron NP_001265217.1
NM_001278289.1 281 Silent Mutation CCA,CCT P65P NP_001265218.1
NM_001318926.1 281 Silent Mutation CCA,CCT P65P NP_001305855.1
NM_001318927.1 281 Silent Mutation CCA,CCT P65P NP_001305856.1
NM_001318928.1 281 Silent Mutation CCA,CCT P65P NP_001305857.1
NM_001318929.1 281 Silent Mutation CCA,CCT P65P NP_001305858.1
NM_001318930.1 281 UTR 5 NP_001305859.1
NM_001318931.1 281 Intron NP_001305860.1
NM_006916.2 281 Intron NP_008847.1
NM_199229.2 281 Silent Mutation CCA,CCT P65P NP_954699.1
XM_006712677.3 281 UTR 5 XP_006712740.1

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