RGD:13592879 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:13592879 -  Homo sapiens

RGD ID: 13592879
RS ID: rs1555350254
ClinVar ID: CV424445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTX2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 57,269,051
GRCh38 14 56,802,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.56802333G>T
NP_758840.1:p.Ala91Asp
NP_001257453.1:p.Ala91Asp
NG_008204.1:g.13134C>A
More... 		04/01/2017 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View
Anophthalmia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anophthalmia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:OTX2
Accession:NM_001270523
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPES
RVQVWFKNRRDKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPL
SDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL*

Gene Symbol:OTX2
Accession:NM_001270525
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPGPWASCPAATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVA
LKINLPESRVQVWFKNRRDKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIW
SPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLN
QSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL*

Gene Symbol:OTX2
Accession:NM_172337
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPES
RVQVWFKNRRDKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPL
SDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL*

Gene Symbol:OTX2
Accession:NM_021728
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPGPWASCPAATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVA
LKINLPESRVQVWFKNRRDKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIW
SPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLN
QSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL*

Gene Symbol:OTX2
Accession:NM_001270524
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPES
RVQVWFKNRRDKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPL
SDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL*

Gene Symbol:OTX2
Accession:NR_073036
Location:EXON;NON-CODING

Gene Symbol:OTX2
Accession:NR_073034
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:29178648  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000616304 CLINVAR
dbSNP (RS) rs1555350254 CLINVAR
MedGen C0003119 CLINVAR
NCBI Gene OTX2 CLINVAR
OMIM 600037 CLINVAR