RGD:401936760 Rat Genome Database

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Variant: RGD:401936760 -  Homo sapiens

RGD ID: 401936760
ClinVar ID: CV2816052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 220,236,134
GRCh38 1 220,062,792
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.472G>A
NM_001286151.2:c.472G>A
NM_001286150.2:c.529G>A
NM_006085.6:c.637G>A
More... 		05/01/2022 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:BPNT1
Accession:NM_006085
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005272999
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:XM_011509063
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSN
KLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMN
SAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005272998
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:XM_047429467
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005273000
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_017000043
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTR
SHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286151
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286149
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286150
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTR
SHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_006711114
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTTRSHSNKLVTDCVAAMNPNAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_047429666
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429624
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_017000045
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_011509065
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273005
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273004
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429573
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003414778 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BPNT1 CLINVAR
OMIM 604053 CLINVAR