RGD:15195344 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:15195344 -  Homo sapiens

RGD ID: 15195344
RS ID: rs73139034
ClinVar ID: CV696622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHML  LOC127272115  OPN3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 241,803,317
GRCh38 1 241,640,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014322.3:c.240G>C
NC_000001.11:g.241640015C>G
NC_000001.10:g.241803317C>G
NM_014322.2:c.240G>C
More... 		12/27/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHML
Accession:NM_001381853
Location:5UTRS;EXON

Gene Symbol:CHML
Accession:NM_001381854
Location:5UTRS;EXON

Gene Symbol:OPN3
Accession:NM_001381856
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSGNRSGGHGYWDGGGAAGAEGPAPAGTLSPAPLFSPGTYERLALLLGSIGLLGVGNNLLVLVLYYKFQRLRTPTHLLL
VNISLSDLLVSLFGVTFTFVSCLRNGWVWDTVGCVWDGFSGSLFEKSSSHKCIYDAF*

Gene Symbol:OPN3
Accession:NM_014322
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSGNRSGGHGYWDGGGAAGAEGPAPAGTLSPAPLFSPGTYERLALLLGSIGLLGVGNNLLVLVLYYKFQRLRTPTHLLL
VNISLSDLLVSLFGVTFTFVSCLRNGWVWDTVGCVWDGFSGSLFGIVSIATLTVLAYERYIRVVHARVINFSWAWRAITY
IWLYSLAWAGAPLLGWNRYILDVHGLGCTVDWKSKDANDSSFVLFLFLGCLVVPLGVIAHCYGHILYSIRMLRCVEDLQT
IQVIKILKYEKKLAKMCFLMIFTFLVCWMPYIVICFLVVNGHGHLVTPTISIVSYLFAKSNTVYNPVIYVFMIRKFRRSL
LQLLCLRLLRCQRPAKDLPAAGSEMQIRPIVMSQKDGDRPKKKVTFNSSSIIFIITSDESLSVDDSDKTNGSKVDVIQVR
PL*

Gene Symbol:OPN3
Accession:NM_001381855
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSGNRSGGHGYWDGGGAAGAEGPAPAGTLSPAPLFSPGTYERLALLLGSIGLLGVGNNLLVLVLYYKFQRLRTPTHLLL
VNISLSDLLVSLFGVTFTFVSCLRNGWVWDTVGCVWDGFSGSLFAVVTRRCYFLKWRTIFPQSLMWL*

Gene Symbol:CHML
Accession:NM_001821
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000955897 CLINVAR
dbSNP (RS) rs73139034 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHML CLINVAR
  OPN3 CLINVAR
OMIM 118825 CLINVAR
  606695 CLINVAR