Product Details

SNP ID
rs148472107
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:53226813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCTTGGTGGCACGAGCGCTGT[C/T]GAGAATGAGTTTTCTGTCCAGGGGC
Phenotype
MIM: 606781
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TKT PubMed Links

Gene Details

Gene
TKT
Gene Name
transketolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001064.3 1773 Missense Mutation AAC,GAC N547D NP_001055.1
NM_001135055.2 1773 Missense Mutation AAC,GAC N547D NP_001128527.1
NM_001258028.1 1773 Missense Mutation AAC,GAC N555D NP_001244957.1
XM_011534054.1 1773 Missense Mutation AAC,GAC N555D XP_011532356.1
XM_011534055.1 1773 Missense Mutation AAC,GAC N381D XP_011532357.1

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