RGD:151786220 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:151786220 -  Homo sapiens

RGD ID: 151786220
RS ID: rs1167429745
ClinVar ID: CV1344943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  LOC127822742  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,963,720
GRCh38 11 119,093,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.901G>A
LRG_1076t2:c.850G>A
NM_001258209.2:c.730G>A
NM_001258208.2:c.781G>A
More... 		10/08/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:XM_005271531
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_024448460
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQAT
IHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258208
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTG
GVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H*

Gene Symbol:HMBS
Accession:NM_000190
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITA
RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271533
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLE
GGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISL
ANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258209
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQA
TIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271532
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_011542796
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLE
TLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAV
GQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETM
QATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001024382
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_017017629
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHIPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001989603 CLINVAR
dbSNP (RS) rs1167429745 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR