RGD:8635223 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:8635223 -  Homo sapiens

RGD ID: 8635223
ClinVar ID: CV90445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VCPKMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,583,167
GRCh38 14 50,116,449
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.7:g.49652917G>A
NM_001040662.1:c.104C>T
NM_024558.2:c.104C>T
NC_000014.9:g.50116449G>A
More... 		missense|missense variant|non-coding transcript variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:VCPKMT
Accession:NM_001040662
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLESSLEDPLRSFVRVLEKRDGTVLRLQQYSYGGVGCVVWDAAIVLSKYLETPEFSGDGAHALSRRSVLELGSGTGA
VGLMAATLGADVVVTDLEELQDLLKMNINMNKHLVTGSVQAKVLKWGEEIEGFPSPPDFILMADCIYYEESLEPLLKTLK
DISGFETCIICCYEQRTMGKNPEIEKKYFEKFPS*

Gene Symbol:VCPKMT
Accession:NM_024558
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLESSLEDPLRSFVRVLEKRDGTVLRLQQYSYGGVGCVVWDAAIVLSKYLETPEFSGDGAHALSRRSVLELGSGTGA
VGLMAATLGADVVVTDLEELQDLLKMNINMNKHLVTGSVQAKVLKWGEEIEGFPSPPDFILMADCIYYEESLEPLLKTLK
DISGFETCIICCYEQRTMGKNPEIEKKYFELLQLDFDFEKIPLEKHDEEYRSEDIHIIYIRKKKSKFPS*

Gene Symbol:VCPKMT
Accession:XM_047431773
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLESSLEDPLRSFVRVLEKRDGTVLRLQQYSYGGVGCVVWDAAIVLSKYLETPEFSGDGAHALSRRSVLELGSGTGA
VGLMAATLGADVVVTDLEELQDLLKMNINMNKHLVTGSVQAKVLKWGEEIEGFPSPPDFILMADCIYYEESLEPLLKTLK
DISGFETCIICCYEQRTMGKNPEIEKKYFE*

Gene Symbol:VCPKMT
Accession:XM_005268060
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLESSLEDPLRSFVRVLEKRDGTVLRLQQYSYGGVGCVVWDAAIVLSKYLETPEFSGDGAHALSRRSVLELGSGTGA
VGLMAATLGADVVVTDLEELQDLLKMNINMNKHLVTGSVQAKVLKWGEEIEGFPSPPDFILMADCIYYEESLEPLLKTLK
DISGFETCIICCYEQRTMGKNPEIEKKYFELLQLDFDFEKIPLEKHDEEYRSEDIHIIYIRKKKSEMKYNKADESIKDKC
TQLSRIYVFSRFLVHVLPCITITFYAGCLSDT*

Gene Symbol:VCPKMT
Accession:XM_017021640
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLESSLEDPLRSFVRVLEKRDGTVLRLQQYSYGGVGCVVWDAAIVLSKYLETPEFSGDGAHALSRRSVLELGSGTGA
VGLMAATLGADVVVTDLEELQDLLKMNINMNKHLVTGSVQAKVLKWGEEIEGFPSPPDFILMADCIYYEESLEPLLKTLK
DISGFETCIICCYEQRTMGKNPEIEKKYFELLQLDFDFEKIPLEKHDEEYRSEDIHIIYIRKKKSQQIPKHGDRIRGVMW
EL*

Gene Symbol:VCPKMT
Accession:NR_049738
Location:EXON;NON-CODING

Gene Symbol:VCPKMT
Accession:XR_007064045
Location:EXON;NON-CODING

Gene Symbol:VCPKMT
Accession:NR_049739
Location:EXON;NON-CODING

Gene Symbol:VCPKMT
Accession:XR_943532
Location:EXON;NON-CODING

Variant Samples