View gene IKBKAP

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol IKBKAP
Gene name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Chromosome 9
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_008788.1
Transcript reference NM_003640.3
Exon/intron information NM_003640.3
Associated with diseases HSAN-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 0
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated October 24, 2015
Version IKBKAP:151024

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/IKBKAP
External URL Orphanet
HGNC 5959
Entrez Gene 8518
PubMed articles IKBKAP
OMIM - Gene 603722
OMIM - Diseases HSAN-3 (neuropathy, sensory and autonomic, hereditary, type III (HSAN-3, dysautonomia))
HGMD IKBKAP
GeneCards IKBKAP
GeneTests IKBKAP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000179 9 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein NM_003640.3 NP_003631.2 2


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