RGD:8654775 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:8654775 -  Homo sapiens

RGD ID: 8654775
RS ID: rs35213748
ClinVar ID: CV30817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 227,007
GRCh38 16 177,008
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_000006.1:g.37871C>T
NC_000016.10:g.177008C>T
NC_000016.9:g.227007C>T
NP_000549.1:p.His59Tyr
More... 		05/10/2018 missense variant other

Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGYGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:4521212   PMID:5840695   PMID:5893086   PMID:13454817   PMID:13897827   PMID:14323593   PMID:14399582  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017098 CLINVAR
  RCV000017099 CLINVAR
  RCV000017100 CLINVAR
  RCV000017101 CLINVAR
  RCV000017102 CLINVAR
dbSNP (RS) rs35213748 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
OMIM Allele 141800.0092 CLINVAR