RGD:156245002 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:156245002 -  Homo sapiens

RGD ID: 156245002
ClinVar ID: CV2313299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 220,236,188
GRCh38 1 220,062,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286149.2:c.418A>G
NM_001286151.2:c.418A>G
NM_001286150.2:c.475A>G
NM_006085.6:c.583A>G
More... 		10/04/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BPNT1
Accession:NM_001286151
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_006711114
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_017000043
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTAR
SHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005272998
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:XM_005272999
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:NM_006085
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_011509063
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSN
KLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMN
SAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286150
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTAR
SHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005273000
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286149
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_047429467
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_047429666
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_011509065
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273005
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_017000045
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273004
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429624
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429573
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004161541 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BPNT1 CLINVAR
OMIM 604053 CLINVAR