rs2149323618 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 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
Advanced Search (OLGA)

Variant: rs2149323618 -  Homo sapiens

RGD ID: 151855098
RS ID: rs2149323618
ClinVar ID: CV1387294
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 45,974,026
GRCh38 1 45,508,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330540.2:c.248G>A
NM_015506.3:c.419G>A
NG_013378.1:g.13171G>A
NC_000001.11:g.45508354G>A
More... 		08/31/2021 nonsense pathogenic Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; methylmalonic aciduria and homocystinuria type cblC; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMACHC
Accession:NM_001330540
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEA
DP*GNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSE
EQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*

Gene Symbol:MMACHC
Accession:NM_015506
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADP*GNQRISGVCIHPRFGGWFAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001958489 CLINVAR
dbSNP (RS) rs2149323618 CLINVAR
MedGen C1848561 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR