RGD:15117222 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15117222 -  Homo sapiens

RGD ID: 15117222
RS ID: rs115081668
ClinVar ID: CV712972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX5-DT  WDR74  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 62,600,485
GRCh38 11 62,833,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.62600485G>A
NR_161381.1:n.1116C>T
NP_001356377.1:p.Pro231Leu
NP_001356378.1:p.Pro231Leu
More...
12/31/2019 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WDR74
Accession:NM_018093
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDL
QGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEHKVYLKSQLNCLLLS
GRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001307977
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDL
QGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEHKDEPQEPQEPNKVP
LEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369451
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDL
QGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEHKVYLKSQLNCLLLS
GRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369453
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDL
QGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEHKVYLKSQLNCLLLS
GRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369450
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDL
QGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEHKVYLKSQLNCLLLS
GRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369447
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLVGCADRTVKHFSTEDGIFQGQ
RHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTSSDPVRLPCPDGWGRWAGLLELRVGPGVCRMRQDPAHPHVV
ATGGKENALKIWDLQGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYG
EYPLTAMTLTPGGNSVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQNPRGLEH
KVYLKSQLNCLLLSGRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRRKKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369449
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQDPAHPHVVATGGKENALKIWDLQGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASP
QRRPVLETTYGEYPLTAMTLTPGGNSVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRI
HRIQNPRGLEHKVYLKSQLNCLLLSGRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRR
KKKRPGSTSP*

Gene Symbol:WDR74
Accession:NM_001369448
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQDPAHPHVVATGGKENALKIWDLQGSEEPVFRAKNVRNDWLDLRVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASP
QRRPVLETTYGEYPLTAMTLTPGGNSVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRI
HRIQNPRGLEHKVYLKSQLNCLLLSGRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKLSGLEQLQGALQTRRR
KKKRPGSTSP*

Gene Symbol:WDR74
Accession:NR_161381
Location:EXON;NON-CODING

Gene Symbol:STX5-DT
Accession:NR_135084
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000962168 CLINVAR
dbSNP (RS) rs115081668 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 105369332 CLINVAR
  WDR74 CLINVAR
OMIM 617947 CLINVAR