View gene ASPM

General information
Gene symbol ASPM
Gene name asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Chromosome 1
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_015867.1
Transcript reference NM_018136.4
Exon/intron information NM_018136.4
Associated with diseases ID, Primary autosomal recessive microcephaly 5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 3
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated January 26, 2016
Version ASPM:160126

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
Homepage URL http://www.LOVD.nl/ASPM
HGNC 19048
Entrez Gene 259266
PubMed articles ASPM
OMIM - Gene 605481
OMIM - Diseases Primary autosomal recessive microcephaly 5
HGMD ASPM
GeneCards ASPM
GeneTests ASPM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000058 1 asp (abnormal spindle) homolog, microcephaly associated (Drosophila), transcript variant 1 NM_018136.4 NP_060606.3 5


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