Product Details

SNP ID
rs7523029
Assay Type
Functionally tested
NCBI dbSNP Submissions
60
Location
Chr.1:40984187 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAATTCTTGAGCAGAGGATGAGTTA[C/T]CTCTCTGAGGGAGAAAATGAGACTT
Phenotype
MIM: 123860
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CTPS1 PubMed Links

Gene Details

Gene
CTPS1
Gene Name
CTP synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301237.1 Intron NP_001288166.1
NM_001905.3 Intron NP_001896.2

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