RGD:41405303 Rat Genome Database

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Variant: RGD:41405303 -  Homo sapiens

RGD ID: 41405303
RS ID: rs146983910
ClinVar ID: CV981603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 48,146,674
GRCh38 7 48,107,077
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_051802.1:g.23475A>T
NC_000007.14:g.48107077A>T
NC_000007.13:g.48146674A>T
NR_109837.1:n.597A>T
More... 		12/11/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:UPP1
Accession:XM_011515512
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATGANAEKAESHNDCPVRLLNPNIAKMKEDILYHFNLTTSRHNFPALFGDVKFVCVGGSPSRMKAFIRCVGAELGLDC
PGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVD
TCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAY
AAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_001287430
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRKLKVTSLEPGTVVITEQAVDTCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQ
GRLDGALCSYTEKDKQAYLEAAYAAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQR
LVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:XM_011515513
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRKLKVTICVCWWKPLPDESLHQHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVDTCF
KAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAYAAG
VRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:XM_011515514
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRKLKVTICVCWWKPLPDESLHQHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVDTCF
KAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAYAAG
VRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_003364
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATGANAEKAESHNDCPVRLLNPNIAKMKEDILYHFNLTTSRHNFPALFGDVKFVCVGGSPSRMKAFIRCVGAELGLDC
PGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVD
TCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAY
AAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_001287426
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATGANAEKAESHNDCPVRLLNPNIAKMKEDILYHFNLTTSRHNFPALFGDVKFVCVGGSPSRMKAFIRCVGAELGLDC
PGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVD
TCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAY
AAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_001287428
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRKLKVTSLEPGTVVITEQAVDTCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQ
GRLDGALCSYTEKDKQAYLEAAYAAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQR
LVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_001287429
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRKLKVTSLEPGTVVITEQAVDTCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQ
GRLDGALCSYTEKDKQAYLEAAYAAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQR
LVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:NM_001362774
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATGANAEKAESHNDCPVRLLNPNIAKMKEDILYHFNLTTSRHNFPALFGDVKFVCVGGSPSRMKAFIRCVGAELGLDC
PGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGGIGLEPGTVVITEQAVD
TCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGALCSYTEKDKQAYLEAAY
AAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIKKKLSKA*

Gene Symbol:UPP1
Accession:XM_047420797
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAFIRCVGAELGLDCPGRDYPNICAGTDRYAMYKVGPVLSVSHGMGIPSISIMLHELIKLLYYARCSNVTIIRIGTSGG
IGLEPGTVVITEQAVDTCFKAEFEQIVLGKRVIRKTDLNKKLVQELLLCSAELSEFTTVVGNTMCTLDFFEGQGRLDGAL
CSYTEKDKQAYLEAAYAAGVRNIEMESSVFAAMCSACGLQAAVVCVTLLNRLEGDQISSPRNVLSEYQQRPQRLVSYFIK
KKLSKA*

Gene Symbol:UPP1
Accession:NR_109837
Location:EXON;NON-CODING

Gene Symbol:UPP1
Accession:XM_047420798
Location:INTRON

Gene Symbol:UPP1
Accession:XM_047420799
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001812918 CLINVAR
dbSNP (RS) rs146983910 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UPP1 CLINVAR
OMIM 191730 CLINVAR