CYP2R1 gene homepage

General information
Gene symbol CYP2R1
Gene name cytochrome P450, family 2, subfamily R, polypeptide 1
Chromosome 11
Chromosomal band p15.2
Imprinted Unknown
Genomic reference NG_007936.1
Transcript reference NM_024514.4
Exon/intron information NM_024514.4 exon/intron table
Associated with diseases VDDR-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arnaud Molin
Total number of public variants reported 10
Unique public DNA variants reported 4
Individuals with public variants 11
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 31, 2018
Version CYP2R1:181231

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_024514.4.
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
Homepage URL https://www.LOVD.nl/CYP2R1
HGNC 20580
Entrez Gene 120227
PubMed articles CYP2R1
OMIM - Gene 608713
OMIM - Diseases VDDR-1B (vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B))
HGMD CYP2R1
GeneCards CYP2R1
GeneTests CYP2R1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006009 11 cytochrome P450, family 2, subfamily R, polypeptide 1 NM_024514.4 NP_078790.2 10


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