KAT6B gene homepage

General information
Gene symbol KAT6B
Gene name K(lysine) acetyltransferase 6B
Chromosome 10
Chromosomal band q22.2
Imprinted Unknown
Genomic reference NG_032048.1
Transcript reference NM_001256468.1, NM_001256469.1, NM_012330.3
Exon/intron information NM_012330.3 exon/intron table
Associated with diseases GTPTS, ID, SBBYSS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Philippe Campeau
Total number of public variants reported 139
Unique public DNA variants reported 107
Individuals with public variants 88
Hidden variants 2
Date created May 03, 2013
Date last updated August 17, 2018
Version KAT6B:180817

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_012330.3.
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/KAT6B
HGNC 17582
Entrez Gene 23522
PubMed articles KAT6B
OMIM - Gene 605880
OMIM - Diseases GTPTS (genitopatellar syndrome (GTPTS))
SBBYSS (Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome))
GeneCards KAT6B
GeneTests KAT6B

Active transcripts




NCBI ID     

NCBI Protein ID     

00010305 10 transcript variant 1 NM_012330.3 NP_036462.2 138
00023816 10 transcript variant 2 NM_001256468.1 NP_001243397.1 76
00023817 10 transcript variant 3 NM_001256469.1 NP_001243398.1 76

Copyright & disclaimer
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