RGD:15198532 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:15198532 -  Homo sapiens

RGD ID: 15198532
RS ID: rs200681449
ClinVar ID: CV755467
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA5A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 87,969,977
GRCh38 16 87,936,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367225.1:c.80C>G
NM_001739.2:c.80C>G
NG_033227.2:g.5159C>G
NC_000016.10:g.87936371G>C
More... 		03/29/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CA5A
Accession:NM_001367225
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRWMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLT
ESVTWIIQKEPVEVAPSQGALCTHQHLCLLKNGLCQLFLKTGANPETRRYSREAIRAWTH*

Gene Symbol:CA5A
Accession:XM_047434595
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRWMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGRAGGHAPLRPLHSAAHLLGLLDLRGLAHHPAADRVGHLDHPEGAR*

Gene Symbol:CA5A
Accession:XM_005256134
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRWMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGEKEPRCLYAQCHSRLLHQAPLQPPRMLPVWGLLSASSSNPNSSQRK
QSATSWKDKTSSEKKRESGTTRSWEAQTRPASGTREQGFLHSFIQLPMVFLPLLVCSKFKCPRSNSDWLFSFNVVILFKN
SSCSHFKILKNQK*

Gene Symbol:CA5A
Accession:XM_047434594
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRWMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASAAFSSLEFCEIPKLQGSCRGREWFGCDRRVFKARGPSSDAAEAGGHL
AGNKT*

Gene Symbol:CA5A
Accession:NM_001739
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRWMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLT
ESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS*

Gene Symbol:CA5A
Accession:NR_159798
Location:EXON;NON-CODING

Gene Symbol:CA5A
Accession:NR_159799
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000912286 CLINVAR
dbSNP (RS) rs200681449 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CA5A CLINVAR
OMIM 114761 CLINVAR