RGD:156365579 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:156365579 -  Homo sapiens

RGD ID: 156365579
ClinVar ID: CV2272138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127269132  TRABD2B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 48,241,029
GRCh38 1 47,775,357
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001194986.2:c.1162G>A
NG_090993.1:g.143C>T
NC_000001.11:g.47775357C>T
NC_000001.10:g.48241029C>T
More... 		12/15/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRABD2B
Accession:XM_011541445
Location:3UTRS;EXON

Gene Symbol:TRABD2B
Accession:XM_017001263
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPLELFIKPWKRNQRCLRGKSCVIPRTTSQLLSFRETSREDIEVRAVGHWCPKSIGQTIRYHCEHPTPVRDGKTGPKKE
KKDSGLLRGPGAVCPEPNPAAAGECAGREPAGLLHHGGPHQALQLRRPQRSHLQPRHIPGHFLGNNTVIDILRQAGLEVD
HTPAGQAIHSPAPQSPAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKR
QSTHQRPRQFNDLWVRIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPTLGLLPAIATTIAVCFL
LHSLGPS*

Gene Symbol:TRABD2B
Accession:XM_024446933
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAAFQAST
RVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWER
KRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQLPNFINTTLPPHEQVTAQ
EIDSYFRQELIYKRNERMGKRVMALLRENEDKICFFAFGAENNKGVEWLRLRGWIGTPARHVDHCRAVLRIQWASGHFLG
NNTVIDILRQAGLEVDHTPAGQAIHSPAPQSPAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDS
LSQLEEFGRQRKWHKRQSTHQRPRQFNDLWVRIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPT
LGLLPAIATTIAVCFLLHSLGPS*

Gene Symbol:TRABD2B
Accession:XM_011541443
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAAFQAST
RVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWER
KRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQVLFALNQTLLQQESVRAG
SLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPHEQVTAQEIDSYFRQELIYKRNERMGKRVMALLRENED
KICFFAFGAENNKGVEWLRLRGWIGTPARHVDHCRAVLRIQWASGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAPQS
PAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDLWV
RIEDSFILKTKAIQQQVQFSAP*

Gene Symbol:TRABD2B
Accession:XM_006710640
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAAFQAST
RVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWER
KRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQVLFALNQTLLQQESVRAG
SLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPHEQVTAQEIDSYFRQELIYKRNERMGKRVMALLRENED
KICFFAFGAENNKGVEWLRLRGWIGTPARHVDHCRAVLRIQWASGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAPQS
PAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDLWV
RIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS*

Gene Symbol:TRABD2B
Accession:NM_001194986
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAAFQAST
RVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWER
KRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQVLFALNQTLLQQESVRAG
SLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPHEQVTAQEIDSYFRQELIYKRNERMGKRVMALLRENED
KICFFAFGAGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAPQSPAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPED
EDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDLWVRIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQ
QQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS*

Gene Symbol:TRABD2B
Accession:XM_024446935
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAAFQAST
RVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWER
KRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQLPNFINTTLPPHEQVTAQ
EIDSYFRQELIYKRNERMGKRVMALLRENEDKICFFAFGAGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAPQSPAPS
PEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDLWVRIED
STTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS*

Gene Symbol:TRABD2B
Accession:XM_047420060
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKQVPRRRRRTRGYSGDQVLFALNQTLLQQESVRAGSLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPH
EQVTAQEIDSYFRQELIYKRNERMGKRVMALLRENEDKICFFAFGAGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAP
QSPAPSPEGTSTSPAPVTPAAAVPKAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDL
WVRIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS*

Gene Symbol:TRABD2B
Accession:XM_011541444
Location:INTRON

Gene Symbol:TRABD2B
Accession:XM_017001261
Location:INTRON

Gene Symbol:TRABD2B
Accession:XM_017001262
Location:INTRON

Gene Symbol:TRABD2B
Accession:XM_017001260
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004124916 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRABD2B CLINVAR
OMIM 614913 CLINVAR