RGD:401718435 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:401718435 -  Homo sapiens

RGD ID: 401718435
ClinVar ID: CV2708286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSF3  LOC125177393  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,180,836
GRCh38 16 89,114,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127214.4:c.1067G>T
NM_001243279.3:c.1067G>T
NM_174917.5:c.1067G>T
NM_001284316.2:c.272G>T
More... 		04/20/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACSF3
Accession:NM_174917
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYVMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_001243279
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYVMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_001127214
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYVMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_001284316
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKN
ITGHTLLERYVMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGEL
LVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVI
GVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NR_104293
Location:EXON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_147928
Location:EXON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_147929
Location:INTRON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_045667
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003266502 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ACSF3 CLINVAR
  LOC125177393 CLINVAR
OMIM 614245 CLINVAR