View gene TTC8

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TTC8
Gene name tetratricopeptide repeat domain 8
Chromosome 14
Chromosomal band q31.3
Imprinted Unknown
Genomic reference NG_008126.1
Transcript reference NM_144596.2
Associated with diseases BBS-8, ID, RP-51
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 2
Hidden variants 1
Notes This database is one of the "Eye disease" gene variant databases.
Date created February 13, 2013
Date last updated December 24, 2013
Version TTC8:131224

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/TTC8
HGNC 20087
Entrez Gene 123016
PubMed articles TTC8
OMIM - Gene 608132
OMIM - Diseases BBS-8 (Bardet-Biedl syndrome, type 8 (BBS-8))
RP-51 (retinitis pigmentosa, type 51 (RP-51))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022015 14 transcript variant 1 NM_144596.2 NP_653197.2 2


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