RGD:12840330 Rat Genome Database

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Variant: RGD:12840330 -  Homo sapiens

RGD ID: 12840330
RS ID: rs782493861
ClinVar ID: CV378178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  LOC127886858  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,928,110
GRCh38 17 41,771,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_401t2:c.-4C>T
LRG_401:g.19855C>T
NG_009090.2:g.19855C>T
NC_000017.11:g.41771858G>A
More... 		07/26/2019 5 prime utr variant likely benign|uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:XM_006721875
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352775
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352777
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352774
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435938
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352773
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_006721874
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_021991
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435939
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435942
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352776
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435940
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435941
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:NM_002230
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_011524758
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_017024590
Location:5UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435937
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTLRFCGERNCPSIATMEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQ
GVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRA
LPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIF
KSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQESK
LIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWTLRNLSDVA
TKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLT
SRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQRHVA
AGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDA
EGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRP
MYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTADHMLA*

Gene Symbol:JUP
Accession:XM_047435934
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTLRFCGERNCPSIATMEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQ
GVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRA
LPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIF
KSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQESK
LIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWTLRNLSDVA
TKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLT
SRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQRHVA
AGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDA
EGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRP
MYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTADHMLA*

Gene Symbol:JUP
Accession:XM_047435935
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTLRFCGERNCPSIATMEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQ
GVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRA
LPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIF
KSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQESK
LIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWTLRNLSDVA
TKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLT
SRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQRHVA
AGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDA
EGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRP
MYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTADHMLA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000430488 CLINVAR
  RCV002339074 CLINVAR
dbSNP (RS) rs782493861 CLINVAR
MedGen CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR