RGD:13836774 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:13836774 -  Homo sapiens

RGD ID: 13836774
RS ID: rs570923866
ClinVar ID: CV588055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC113788297  NDUFAF6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 96,037,333
GRCh38 8 95,025,105
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016647.2:g.134835A>G
NC_000008.11:g.95025105A>G
NC_000008.10:g.96037333A>G
NP_689629.2:p.Met33Val
More... 		08/12/2022 5 prime utr variant|intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFAF6
Accession:NM_001354527
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001330582
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354519
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354532
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354533
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354530
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354529
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354517
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354528
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354518
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354531
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354521
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354524
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354534
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354522
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354525
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354514
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354515
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_152416
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARVRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLP
AESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDERE
KNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLL
PLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NR_148915
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148911
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148913
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148910
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148914
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148912
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NM_001354516
Location:INTRON

Gene Symbol:NDUFAF6
Accession:NR_148906
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148903
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148908
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148909
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148907
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148905
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148904
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000732985 CLINVAR
dbSNP (RS) rs570923866 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 113788297 CLINVAR
  NDUFAF6 CLINVAR
OMIM 612392 CLINVAR