ANKH gene homepage

General information
Gene symbol ANKH
Gene name ankylosis, progressive homolog (mouse)
Chromosome 5
Chromosomal band p15.2
Imprinted Unknown
Genomic reference NG_008273.1
Transcript reference NM_054027.4
Exon/intron information NM_054027.4 exon/intron table
Associated with diseases CCAL-2, CMDD, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jirko Kühnisch
Total number of public variants reported 37
Unique public DNA variants reported 23
Individuals with public variants 32
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated March 23, 2020
Version ANKH:200323

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_054027.4.
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
External URL Orphanet
HGNC 15492
Entrez Gene 56172
PubMed articles ANKH
OMIM - Gene 605145
OMIM - Diseases CCAL-2 (chondrocalcinosis, type 2 (CCAL-2))
CMDD (dysplasia, craniometaphyseal, autosomal dominant (CMDD))
GeneCards ANKH
GeneTests ANKH

Active transcripts




NCBI ID     

NCBI Protein ID     

00000739 5 ankylosis, progressive homolog (mouse) NM_054027.4 NP_473368.1 37

Copyright & disclaimer
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