Product Details

SNP ID
rs1133910
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:24562466 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGGGCTCTGCTTCGGGGATAAGG[A/C]CTGCAGCATCCGGCTGCTCCTCTCC
Phenotype
MIM: 300948
Polymorphism
A/C, Transversion 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_001163264.1 995 Missense Mutation GCC,TCC A295S NP_001156736.1
NM_001163265.1 995 Missense Mutation GCC,TCC A313S NP_001156737.1
NM_004845.4 995 Missense Mutation GCC,TCC A313S NP_004836.2
XM_017029977.1 995 Missense Mutation GCC,TCC A217S XP_016885466.1

View Full Product Details