RGD:126923140 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:126923140 -  Homo sapiens

RGD ID: 126923140
RS ID: rs1820526529
ClinVar ID: CV1046114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 21,994,149
GRCh38 9 21,994,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363763.2:c.-4+671C>T
NM_058195.4:c.182C>T
LRG_11:g.5342C>T
NG_007485.1:g.5342C>T
More... 		06/30/2020 intron variant uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLLRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001365500 CLINVAR
dbSNP (RS) rs1820526529 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR