The ACP5 gene homepage

General information
Gene symbol ACP5
Gene name acid phosphatase 5, tartrate resistant
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_028127.1
Transcript reference NM_001111034.1, NM_001111035.1, NM_001111036.1, NM_001611.3
Associated with diseases Spondyloenchondrodysplasia with immune dysregulation
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 25
Unique public DNA variants reported 6
Individuals with public variants 26
Hidden variants 21
Date created November 30, -0001
Date last updated September 28, 2016
Version ACP5:160928

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:124
Entrez Gene 54
PubMed articles ACP5
OMIM - Gene 171640
OMIM - Diseases Spondyloenchondrodysplasia with immune dysregulation


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00029203 19 transcript variant 3 NM_001111036.1 NP_001104506.1 25
00029204 19 transcript variant 1 NM_001111035.1 NP_001104505.1 25
00029205 19 transcript variant 2 NM_001111034.1 NP_001104504.1 25
00049405 19 transcript variant 4 NM_001611.3 NP_001602.1 25