RGD:401735988 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: RGD:401735988 -  Homo sapiens

RGD ID: 401735988
ClinVar ID: CV2692247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOT2  HEATR4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 74,036,309
GRCh38 14 73,569,605
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001364178.1:c.365T>G
NP_006812.3:p.Leu122Arg
NC_000014.8:g.74036309T>G
NM_006821.4:c.365T>G
More... 		03/29/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HEATR4
Accession:XM_047431370
Location:5UTRS;INTRON

Gene Symbol:ACOT2
Accession:NM_006821
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNKLLSPHPHSVVLRSEFKMASSPAVLRASRLYQWSLKSSAQFLGSPQLRQVGQIIRVPARMAATLILEPAGRCCWDEP
VRIAVRGLAPEQPVTLRASLRDEKGALFQAHARYRADTLGERDLERAPALGGSFAGLEPMGLLWALEPEKPLVRLVKRDV
RTPLAVELEVLDGHDPDPGRLLCQTRHERYFLPPGVRREPVRVGRVRGTLFLPPEPGPFPGIVDMFGTGGGLLEYRASLL
AGKGFAVMALAYYNYEDLPKTMETLHLEYFEEAMNYLLSHPEVKGPGVGLLGISKGGELCLSMASFLKGITAAVVINGSV
ANVGGTLHYKGETLPPVGVNRNRIKVTKDGYADIVDVLNSPLEGPDQKSFIPVERAESTFLFLVGQDDHNWKSEFYANEA
CKRLQAHGRRKPQIICYPETGHYIEPPYFPLCRASLHALVGSPIIWGGEPRAHAMAQVDAWKQLQTFFHKHLGGHEGTIP
SKV*

Gene Symbol:ACOT2
Accession:NM_001364178
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNKLLSPHPHSVVLRSEFKMASSPAVLRASRLYQWSLKSSAQFLGSPQLRQVGQIIRVPARMAATLILEPAGRCCWDEP
VRIAVRGLAPEQPVTLRASLRDEKGALFQAHARYRADTLGERDLERAPALGGSFAGLEPMGLLWALEPEKPLVRLVKRDV
RTPLAVELEVLDGHDPDPGRLLCQTRHERYFLPPGVRREPVRVGRVRGTLFLPPEPGPFPGIVDMFGTGGGLLEYRASLL
AGKGFAVMALAYYNYEDLPKTMETLHLEYFEEAMNYLLSHPEMESCCVTQAGVQWHDLGSLQTPPPRFN*

Gene Symbol:HEATR4
Accession:NM_001220484
Location:INTRON

Gene Symbol:HEATR4
Accession:XM_011536761
Location:INTRON

Gene Symbol:HEATR4
Accession:XM_047431371
Location:INTRON

Gene Symbol:HEATR4
Accession:XM_024449582
Location:INTRON

Gene Symbol:HEATR4
Accession:NM_203309
Location:INTRON

Gene Symbol:ACOT2
Accession:NM_001364177
Location:INTRON

Gene Symbol:HEATR4
Accession:XR_002957552
Location:INTRON;NON-CODING

Gene Symbol:ACOT2
Accession:NR_046028
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004303723 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACOT2 CLINVAR
  HEATR4 CLINVAR
OMIM 609972 CLINVAR