Product Details

SNP ID
rs143356584
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:24952573 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCGCCTCCTCGCTGCTCCCGGC[C/T]ATGTTTCTCCCGGGGAACGCGGGAA
Phenotype
MIM: 610751 MIM: 611260
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PRTFDC1 PubMed Links

Gene Details

Gene
PRTFDC1
Gene Name
phosphoribosyl transferase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282786.1 72 Missense Mutation NP_001269715.1
NM_020200.6 72 Missense Mutation NP_064585.1
Gene
THNSL1
Gene Name
threonine synthase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024838.4 72 Intron NP_079114.3
XM_005252597.2 72 Intron XP_005252654.1
XM_017016665.1 72 Intron XP_016872154.1

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