TMEM231 gene homepage

General information
Gene symbol TMEM231
Gene name transmembrane protein 231
Chromosome 16
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_033109.1
Transcript reference NM_001077416.2
Exon/intron information NM_001077416.2 exon/intron table
Associated with diseases ID, JBTS-20, MKS-11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 39
Unique public DNA variants reported 35
Individuals with public variants 5
Hidden variants 5
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated August 06, 2020
Version TMEM231:200806

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_001077416.2.
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
HGNC 37234
Entrez Gene 79583
PubMed articles TMEM231
OMIM - Gene 614949
OMIM - Diseases JBTS-20 (Joubert syndrome, type 20 (JBTS-20))
MKS-11 (Meckel syndrome, type 11 (MKS-11))
GeneCards TMEM231
GeneTests TMEM231

Active transcripts




NCBI ID     

NCBI Protein ID     

00024007 16 transcript variant 1 NM_001077416.2 NP_001070884.2 39

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