The SEPT12 gene homepage

General information
Gene symbol SEPT12
Gene name septin 12
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_030315.1
Transcript reference NM_144605.4
Exon/intron information NM_144605.4 exon/intron table
Associated with diseases SPGF10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 29
Unique public DNA variants reported 26
Individuals with public variants 3
Hidden variants 9
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 October 14, 2011
Date last updated January 11, 2023
Version SEPT12:230111

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_144605.4.
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 https://www.LOVD.nl/SEPT12
HGNC 26348
Entrez Gene 124404
PubMed articles SEPT12
OMIM - Gene 611562
OMIM - Diseases SPGF10 (spermatogenic failure, type 10 (SPGF-10))
HGMD SEPT12
GeneCards SEPT12
GeneTests SEPT12
Orphanet SEPT12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018681 16 transcript variant 2 NM_144605.4 NP_653206.2 29


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