rs1187309718 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 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
Advanced Search (OLGA)

Variant: rs1187309718 -  Homo sapiens

RGD ID: 151890361
RS ID: rs1187309718
ClinVar ID: CV1394831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  RDH11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 68,145,062
GRCh38 14 67,678,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001252650.2:c.723C>A
NM_016026.4:c.933C>A
NG_042282.1:g.22449C>A
NC_000014.9:g.67678345G>T
More... 		11/22/2022 missense variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:RDH11
Accession:NM_016026
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGEL
VAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHVLINNAGVMMCPYSKTADGFEMHIGVNHLGHFLLTHLL
LEKLKESAPSRIVNVSSLAHHLGRIHFHNLQGEKFYNAGLAYCHSKLANILFTQELARRLKGSGVTTYSVHPGTVQSELV
RHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSCELLGLPID*

Gene Symbol:RDH11
Accession:NM_001252650
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGEL
VAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHVLINNAGVMMCPYSKTADGFEMHIGVNHLGSGVTTYSV
HPGTVQSELVRHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSC
ELLGLPID*

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001888393 CLINVAR
dbSNP (RS) rs1187309718 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GPHN CLINVAR
  RDH11 CLINVAR
OMIM 603930 CLINVAR
  607849 CLINVAR