Eye diseases - LOVD
TIMP metallopeptidase inhibitor 3 (TIMP3)
LOVD v.2.0 Build 35 [
Current LOVD status
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Curator:
LOVD-team, but with Curator vacancy
TIMP3 homepage
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General information
Gene name
TIMP metallopeptidase inhibitor 3
Gene symbol
TIMP3
Chromosome Location
22q12.3
Database location
grenada.lumc.nl
Curator
LOVD-team, but with Curator vacancy
PubMed references
View all (unique)
PubMed references
in the TIMP3 database
Date of creation
July 04, 2012
Last update
July 04, 2012
Version
TIMP3 120704
Add sequence variant
Submit a sequence variant
First time submitters
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Reference sequence file
Genomic reference sequence
for describing sequence variants
Genomic refseq ID
NG_009117.1
Transcript refseq ID
NM_000362.4
Exon/intron information
Exon/intron information table
Total number of unique DNA variants reported
0
Total number of individuals with variant(s)
0
Total number of variants reported
0
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Graphical displays and utilities
Summary tables
Summary of all sequence variants in the TIMP3 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker
The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser
Show variants in the UCSC Genome Browser (
compact view
)
Ensembl Genome Browser
Show variants in the Ensembl Genome Browser (
compact view
)
NCBI Sequence Viewer
Show distribution histogram of variants in the NCBI Sequence Viewer
Links to other resources
HGNC
11822
Entrez Gene
7078
OMIM - Gene
188826
UniProtKB (SwissProt/TrEMBL)
P35625
HGMD
TIMP3
GeneCards
TIMP3
GeneTests
TIMP3
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©2004-2012
Leiden University Medical Center