The ISPD gene homepage

This database is one from the Leiden Muscular Dystrophy pages
General information
Gene symbol ISPD
Gene name isoprenoid synthase domain containing
Chromosome 7
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_032690.1
Transcript reference NM_001101426.3
Exon/intron information NM_001101426.3 exon/intron table
Associated with diseases ID, MDDGA-7, MDDGC-7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Jacqueline Olender and Johan den Dunnen
Total number of public variants reported 227
Unique public DNA variants reported 120
Individuals with public variants 246
Hidden variants 14
Notes This database is one from the Leiden Muscular Dystrophy pages
Date created September 13, 2012
Date last updated November 25, 2021
Version ISPD:211125

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_001101426.3.
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 37276
Entrez Gene 729920
PubMed articles ISPD
OMIM - Gene 614631
OMIM - Diseases MDDGA-7 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A7 (MDDGA-7))
MDDGC-7 (LGMD-2U)
HGMD ISPD
GeneCards ISPD
GeneTests ISPD
Orphanet ISPD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000697 7 transcript variant 1 NM_001101426.3 NP_001094896.1 227


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