Product Details

SNP ID
rs199980428
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8255505 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGTGTGTCTGCACCCCTAGTTT[G/T]CCCACCCCCCGTCAGCTGAGGTGGA
Phenotype
MIM: 613129 MIM: 602133
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CTC1 PubMed Links

Gene Details

Gene
CTC1
Gene Name
CTS telomere maintenance complex component 1
There are no transcripts associated with this gene.

Gene
PFAS
Gene Name
phosphoribosylformylglycinamidine synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012393.2 529 Missense Mutation GCC,TCC A130S NP_036525.1
XM_006721546.2 529 Missense Mutation GCC,TCC A130S XP_006721609.1
XM_017024760.1 529 Intron XP_016880249.1

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