DSPP gene homepage

General information
Gene symbol DSPP
Gene name dentin sialophosphoprotein
Chromosome 4
Chromosomal band q21.3
Imprinted Not imprinted
Genomic reference NG_011595.1
Transcript reference NM_014208.3
Exon/intron information NM_014208.3 exon/intron table
Associated with diseases DFNA-39, DGI-1, DGI-3, DTDP-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 219
Unique public DNA variants reported 192
Individuals with public variants 75
Hidden variants 7
Date created April 29, 2010
Date last updated August 01, 2014
Version DSPP:140801

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_014208.3.
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
Homepage URL http://www.LOVD.nl/DSPP
External URL Orphanet
HGNC 3054
Entrez Gene 1834
PubMed articles DSPP
OMIM - Gene 125485
OMIM - Diseases DFNA-39 (deafness, autosomal dominant, type 39, with dentinogenesis (DFNA-39))
DGI-1 (dentinogenesis imperfecta, Shields type I (DGI-1))
DGI-3 (dentinogenesis imperfecta, Shields type III (DGI-3))
DTDP-2 (dysplasia, dentin, type 2 (DTDP-2))
HGMD DSPP
GeneCards DSPP
GeneTests DSPP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006722 4 dentin sialophosphoprotein NM_014208.3 NP_055023.2 219


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