The CDK5RAP2 gene homepage

General information
Gene symbol CDK5RAP2
Gene name CDK5 regulatory subunit associated protein 2
Chromosome 9
Chromosomal band q33.3
Imprinted Unknown
Genomic reference NG_008999.1
Transcript reference NM_001011649.1, NM_001272039.1, NM_018249.4, NR_073555.1
Associated with diseases ID, MCPH-3
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 272
Unique public DNA variants reported 26
Individuals with public variants 35
Hidden variants 68
Date created November 30, -0001
Date last updated September 28, 2016
Version CDK5RAP2:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:18672
Entrez Gene 55755
PubMed articles CDK5RAP2
OMIM - Gene 608201
OMIM - Diseases MCPH-3 (microcephaly, type 3, autosomal recessive (MCPH-3))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016275 9 Manually created transcript. (expired, new version available) NM_001011649.1 - 272
00016276 9 Manually created transcript. (expired, new version available) NM_018249.4 - 272
00048020 9 transcript variant 3 NM_001272039.1 NP_001258968.1 259
00031873 9 Manually created transcript NR_073555.1 - -