Product Details

SNP ID
rs148789676
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:24562362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGGCTGCTTTGGGTGAGGAAGG[A/G]GGTGAGGTTTTGAGTGGAAGCCATG
Phenotype
MIM: 300948
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCYT1B PubMed Links

Gene Details

Gene
PCYT1B
Gene Name
phosphate cytidylyltransferase 1, choline, beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163264.1 1099 Silent Mutation CCC,CCT P329P NP_001156736.1
NM_001163265.1 1099 Intron NP_001156737.1
NM_004845.4 1099 Silent Mutation CCC,CCT P347P NP_004836.2
XM_017029977.1 1099 Silent Mutation CCC,CCT P251P XP_016885466.1

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