RGD:15194257 Rat Genome Database

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Variant: RGD:15194257 -  Homo sapiens

RGD ID: 15194257
RS ID: rs374027174
ClinVar ID: CV705778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UFD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 19,444,131
GRCh38 22 19,456,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.10:g.19444131A>G
NM_005659.6:c.657T>C
NP_001349839.1:p.Tyr214=
NP_001030324.2:p.Tyr219=
More... 		06/06/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UFD1
Accession:NM_001035247
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSFNMFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGGKIIMPPSALDQLSRLNITYPMLFKLTNKNSDRMTHC
GVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAI
NYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKK
GVEPSPSPIKPGDIKRGIPNYEFKLG*

Gene Symbol:UFD1
Accession:XM_047441488
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMQNLLLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAINYNEKIYELRVMETKP
DKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKKGVEPSPSPIKPGDIKR
GIPNYEFKLGKITFIRNSRPLVKKVEEDEAGGRFVAFSGEGQSLRKKGRKP*

Gene Symbol:UFD1
Accession:XM_047441487
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPSALDQLSRLNITYPMLFKLTNKNSDRMTHCGVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYSKFQP
QSPDFLDITNPKAVLENALRNFACLTTGDVIAINYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHE
ESTEGEADHSGYAGELGFRAFSGSGNRLDGKKKGVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEEDEAG
GRFVAFSGEGQSLRKKGRKP*

Gene Symbol:UFD1
Accession:NM_005659
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSFNMFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGGKIIMPPSALDQLSRLNITYPMLFKLTNKNSDRMTHC
GVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAI
NYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKK
GVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEEDEAGGRFVAFSGEGQSLRKKGRKP*

Gene Symbol:UFD1
Accession:NM_001362910
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGGKIIMPPSALDQLSRLNITYPMLFKLTNKNSDRMTHCGVLEF
VADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAINYNEK
IYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKKGVEPS
PSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEEDEAGGRFVAFSGEGQSLRKKGRKP*

Gene Symbol:UFD1
Accession:XM_047441486
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVIMPPSALDQLSRLNITYPMLFKLTNKNSDRMTHCGVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYS
KFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAINYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQ
VQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKKGVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEE
DEAGGRFVAFSGEGQSLRKKGRKP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000955596 CLINVAR
dbSNP (RS) rs374027174 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene UFD1 CLINVAR
OMIM 601754 CLINVAR