The BCAP31 gene homepage

General information
Gene symbol BCAP31
Gene name B-cell receptor-associated protein 31
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_023231.1
Transcript reference NM_001139457.2, NM_001256447.1
Exon/intron information NM_001139457.2 exon/intron table, NM_001256447.1 exon/intron table
Associated with diseases DDCH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Laurent Villard
Total number of public variants reported 128
Unique public DNA variants reported 98
Individuals with public variants 37
Hidden variants 6
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated May 09, 2022
Version BCAP31:220509

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_001139457.2, NM_001256447.1.
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 https://www.LOVD.nl/BCAP31
HGNC 16695
Entrez Gene 10134
PubMed articles BCAP31
OMIM - Gene 300398
OMIM - Diseases DDCH (deafness, dystonia, cerebral hypomyelination (DDCH, deletion syndrome, chromosome Xq28))
HGMD BCAP31
GeneCards BCAP31
GeneTests BCAP31
Orphanet BCAP31


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025534 X transcript variant 1 NM_001139457.2 NP_001132929.1 128
00025571 X transcript variant 4 NM_001256447.1 NP_001243376.1 128


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