The PCYT1B gene homepage

General information
Gene symbol PCYT1B
Gene name phosphate cytidylyltransferase 1, choline, beta
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_013253.1
Transcript reference NM_004845.4
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 15
Individuals with public variants 4
Hidden variants -
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 17, 2020
Version PCYT1B:200717

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 8755
Entrez Gene 9468
PubMed articles PCYT1B
OMIM - Gene 300948
HGMD PCYT1B
GeneCards PCYT1B
GeneTests PCYT1B
Orphanet PCYT1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000854 X transcript variant 1 NM_004845.4 NP_004836.2 22


Copyright & disclaimer
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