The ASPM gene homepage

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_001206846.1, NM_018136.4
Associated with diseases ID, MCPH-5
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 395
Unique public DNA variants reported 43
Individuals with public variants 35
Hidden variants 62
Date created November 30, -0001
Date last updated September 28, 2016
Version ASPM: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:19048
Entrez Gene 259266
PubMed articles ASPM
OMIM - Gene 605481
OMIM - Diseases MCPH-5 (microcephaly, type 5, autosomal recessive (MCPH-5))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010150 1 transcript variant 1 NM_018136.4 NP_060606.3 395
00010149 1 transcript variant 2 NM_001206846.1 NP_001193775.1 244