The SOX9 gene homepage

General information
Gene symbol SOX9
Gene name SRY (sex determining region Y)-box 9
Chromosome 17
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_012490.1
Transcript reference NM_000346.3
Exon/intron information NM_000346.3 exon/intron table
Associated with diseases CMPD, SRXX2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 48
Individuals with public variants 12
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 13, 2021
Version SOX9:211213

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_000346.3.
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/SOX9
HGNC 11204
Entrez Gene 6662
PubMed articles SOX9
OMIM - Gene 608160
OMIM - Diseases CMPD (dysplasia, campomelic)
SRXX2 (46,XX sex reversal, type 2 (SRXX-2))
HGMD SOX9
GeneCards SOX9
GeneTests SOX9
Orphanet SOX9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020044 17 SRY (sex determining region Y)-box 9 NM_000346.3 NP_000337.1 57


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