RGD:156203590 Rat Genome Database

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Variant: RGD:156203590 -  Homo sapiens

RGD ID: 156203590
ClinVar ID: CV2313328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXL2  UBP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 33,437,681
GRCh38 3 33,396,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128160.2:c.1255A>G
NM_001128161.2:c.1363A>G
NM_014517.5:c.1363A>G
NC_000003.12:g.33396189T>C
More... 		07/14/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UBP1
Accession:XM_047448849
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVGIIDTRTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQI
KVFKPKGADRKQKTDREKMEKRTAHEKEKYQPSYDTTILTEMRLEPIIEDAVEHEQKKSSKRTLPADYGDSLAKRGSCSP
WPDAPTAYVNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQGDGASQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNF
SGADLLKLTKEDLVQICGAADGIRLYNSLKSRSVRPRLTIYVCREQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEE
MIASEVARKLALVFNIPLHQINQVYRQGPTGIHILVSDQMVQNFQDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:UBP1
Accession:NM_001128160
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWVLKMDEVIESGLVHDFDASLSGIGQELGAGAYSMSDVLALPIFKQEDSSLPLDGETEHPPFQYVMCAATSPAVKLHD
ETLTYLNQGQSYEIRMLDNRKMGDMPEINGKLVKSIIRVVFHDRRLQYTEHQQLEGWKWNRPGDRLLDLDIPMSVGIIDT
RTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQIKVFKPKGA
DRKQKTDREKMEKRTAHEKEKYQPSYDTTILTECSPWPDAPTAYVNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQGDGA
SQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNFSGADLLKLTKEDLVQICGAADGIRLYNSLKSRSVRPRLTIYVCR
EQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEEMIASEVARKLALVFNIPLHQINQVYRQGPTGIHILVSDQMVQNF
QDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:UBP1
Accession:NM_014517
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWVLKMDEVIESGLVHDFDASLSGIGQELGAGAYSMSDVLALPIFKQEDSSLPLDGETEHPPFQYVMCAATSPAVKLHD
ETLTYLNQGQSYEIRMLDNRKMGDMPEINGKLVKSIIRVVFHDRRLQYTEHQQLEGWKWNRPGDRLLDLDIPMSVGIIDT
RTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQIKVFKPKGA
DRKQKTDREKMEKRTAHEKEKYQPSYDTTILTEMRLEPIIEDAVEHEQKKSSKRTLPADYGDSLAKRGSCSPWPDAPTAY
VNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQGDGASQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNFSGADLLKL
TKEDLVQICGAADGIRLYNSLKSRSVRPRLTIYVCREQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEEMIASEVAR
KLALVFNIPLHQINQVYRQGPTGIHILVSDQMVQNFQDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:UBP1
Accession:NM_001128161
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWVLKMDEVIESGLVHDFDASLSGIGQELGAGAYSMSDVLALPIFKQEDSSLPLDGETEHPPFQYVMCAATSPAVKLHD
ETLTYLNQGQSYEIRMLDNRKMGDMPEINGKLVKSIIRVVFHDRRLQYTEHQQLEGWKWNRPGDRLLDLDIPMSVGIIDT
RTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQIKVFKPKGA
DRKQKTDREKMEKRTAHEKEKYQPSYDTTILTEMRLEPIIEDAVEHEQKKSSKRTLPADYGDSLAKRGSCSPWPDAPTAY
VNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQGDGASQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNFSGADLLKL
TKEDLVQICGAADGIRLYNSLKSRSVRPRLTIYVCREQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEEMIASEVAR
KLALVFNIPLHQINQVYRQGPTGIHILVSDQMVQNFQDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:UBP1
Accession:XM_047448847
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSFFWQQIPSSSPPKVKNILIGCLVGGHRDSRELRPSPCSDVLALPIFKQEDSSLPLDGETEHPPFQYVMCAATSPAVK
LHDETLTYLNQGQSYEIRMLDNRKMGDMPEINGKLVKSIIRVVFHDRRLQYTEHQQLEGWKWNRPGDRLLDLDIPMSVGI
IDTRTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQIKVFKP
KGADRKQKTDREKMEKRTAHEKEKYQPSYDTTILTECSPWPDAPTAYVNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQG
DGASQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNFSGADLLKLTKEDLVQICGAADGIRLYNSLKSRSVRPRLTIY
VCREQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEEMIASEVARKLALVFNIPLHQINQVYRQGPTGIHILVSDQMV
QNFQDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:UBP1
Accession:XM_047448846
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 458
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSFFWQQIPSSSPPKVKNILIGCLVGGHRDSRELRPSPCSDVLALPIFKQEDSSLPLDGETEHPPFQYVMCAATSPAVK
LHDETLTYLNQGQSYEIRMLDNRKMGDMPEINGKLVKSIIRVVFHDRRLQYTEHQQLEGWKWNRPGDRLLDLDIPMSVGI
IDTRTNPSQLNAVEFLWDPAKRTSAFIQVHCISTEFTPRKHGGEKGVPFRIQVDTFKQNENGEYTDHLHSASCQIKVFKP
KGADRKQKTDREKMEKRTAHEKEKYQPSYDTTILTEMRLEPIIEDAVEHEQKKSSKRTLPADYGDSLAKRGSCSPWPDAP
TAYVNNSPSPAPTFTSPQQSTCSVPDSNSSSPNHQGDGASQTSGEQIQPSATIQETQQWLLKNRFSSYTRLFSNFSGADL
LKLTKEDLVQICGAADGIRLYNSLKSRSVRPRLTIYVCREQPSSTVLQGQQQAASSARENGSGAPYVYHAIYLEEMIASE
VARKLALVFNIPLHQINQVYRQGPTGIHILVSDQMVQNFQDESCFLFSTVKAESSDGIHIILK*

Gene Symbol:FBXL2
Accession:NM_001349316
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349319
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_012157
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349323
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349326
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349321
Location:INTRON

Gene Symbol:UBP1
Accession:XM_047448848
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349325
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349324
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349322
Location:INTRON

Gene Symbol:FBXL2
Accession:NM_001349320
Location:INTRON

Gene Symbol:FBXL2
Accession:NR_146135
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146121
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146128
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146129
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146127
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146131
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146122
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146132
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146124
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146133
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146125
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146134
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146123
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146126
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:NR_146130
Location:INTRON;NON-CODING

Gene Symbol:FBXL2
Accession:XR_007095659
Location:INTRON;NON-CODING

Gene Symbol:UBP1
Accession:XR_007095724
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004163359 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBXL2 CLINVAR
  UBP1 CLINVAR
OMIM 605652 CLINVAR
  609784 CLINVAR