RGD:21074135 Rat Genome Database

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Variant: RGD:21074135 -  Homo sapiens

RGD ID: 21074135
RS ID: rs1592172912
ClinVar ID: CV796527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130006887  VPS11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,938,638
GRCh38 11 119,067,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378218.1:c.104C>T
NP_001365148.1:p.Ser35Phe
NM_001378220.1:c.104C>T
NM_021729.6:c.104C>T
More... 		11/01/2016 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:VPS11
Accession:NM_001290185
Location:5UTRS;EXON

Gene Symbol:VPS11
Accession:NM_001378218
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPAFGSAASKFLCLPPGITVCDSGRGSLVFGDMEGQIWFLPRSLQLTGF
QAYKLRVTHLYQLKQHNILASVGEDEEGINPLVCPQVKIWNLEKRDGGNPLCTRIFPAIPGTEPTVVSCLTVHENLNFMA
IGFTDGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTENVQSYIVSGKDYPRVELDTHGCGLRCS
ALSDPSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIAHWFRGYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDL
CNKFIAYSTVFEDVVDVLAEWGSLYVLTRDGRVHALQEKDTQTKLEMLFKKNLFEMAINLAKSQHLDSDGLAQIFMQYGD
HLYSKGNHDGAVQQYIRTIGKLEPSYVIRKFLDAQRIHNLTAYLQTLHRQSLANADHTTLLLNCYTKLKDSSKLEEFIKK
KSESEVHFDVETAIKVLRQAGYYSHALYLAENHAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHI
PEQTTQLLKGLCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYDTLLELRLQNWAH
EKDPQVKEKLHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYLYEQGKLFQQIMHYHMQHEQYRQVISVCERHGEQD
PSLWEQALSYFARKEEDCKEYVAAVLKHIENKNLMPPLLVVQTLAHNSTATLSVIRDYLVQKLQKQSQQIAQDELRVRRY
REETTRIRQEIQELKASPKIFQKTKCSICNSALELPSVHFLCGHSFHQHCFESYSESDADCPTCLPENRKVMDMIRAQEQ
KRDLHDQFQHQLKCSNDSFSVIADYFGRGVFNKLTLLTDPPTARLTSSLEAGLQRDLLMHSRRGT*

Gene Symbol:VPS11
Accession:NM_021729
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPAFGSAASKFLCLPPGITVCDSGRGSLVFGDMEGQIWFLPRSLQLTGF
QAYKLRVTHLYQLKQHNILASVGEDEEGINPLVKIWNLEKRDGGNPLCTRIFPAIPGTEPTVVSCLTVHENLNFMAIGFT
DGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTENVQSYIVSGKDYPRVELDTHGCGLRCSALSD
PSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIAHWFRGYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDLCNKF
IAYSTVFEDVVDVLAEWGSLYVLTRDGRVHALQEKDTQTKLEMLFKKNLFEMAINLAKSQHLDSDGLAQIFMQYGDHLYS
KGNHDGAVQQYIRTIGKLEPSYVIRKFLDAQRIHNLTAYLQTLHRQSLANADHTTLLLNCYTKLKDSSKLEEFIKKKSES
EVHFDVETAIKVLRQAGYYSHALYLAENHAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHIPEQT
TQLLKGLCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYDTLLELRLQNWAHEKDP
QVKEKLHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYLYEQGKLFQQIMHYHMQHEQYRQVISVCERHGEQDPSLW
EQALSYFARKEEDCKEYVAAVLKHIENKNLMPPLLVVQTLAHNSTATLSVIRDYLVQKLQKQSQQIAQDELRVRRYREET
TRIRQEIQELKASPKIFQKTKCSICNSALELPSVHFLCGHSFHQHCFESYSESDADCPTCLPENRKVMDMIRAQEQKRDL
HDQFQHQLKCSNDSFSVIADYFGRGVFNKLTLLTDPPTARLTSSLEAGLQRDLLMHSRRGT*

Gene Symbol:VPS11
Accession:NM_001378220
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPAFGSAASKFLCLPPGITVCDSGRGSLVFGDMEGQIWFLPRSLQLTGF
QAYKLRVTHLYQLKQHNILASVGEDEEGINPLVKIWNLEKRDGGNPLCTRIFPAIPGTEPTVVSCLTVHENLNFMAIGFT
DGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTENVQSYIVSGKDYPRVELDTHGCGLRCSALSD
PSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIAHWFRGYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDLCNKF
IAYSTVFEDVVDVLAEWGSLYVLTRDGRVHALQEKDTQTKLENLFEMAINLAKSQHLDSDGLAQIFMQYGDHLYSKGNHD
GAVQQYIRTIGKLEPSYVIRKFLDAQRIHNLTAYLQTLHRQSLANADHTTLLLNCYTKLKDSSKLEEFIKKKSESEVHFD
VETAIKVLRQAGYYSHALYLAENHAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHIPEQTTQLLK
GLCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYDTLLELRLQNWAHEKDPQVKEK
LHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYLYEQGKLFQQIMHYHMQHEQYRQVISVCERHGEQDPSLWEQALS
YFARKEEDCKEYVAAVLKHIENKNLMPPLLVVQTLAHNSTATLSVIRDYLVQKLQKQSQQIAQDELRVRRYREETTRIRQ
EIQELKASPKIFQKTKCSICNSALELPSVHFLCGHSFHQHCFESYSESDADCPTCLPENRKVMDMIRAQEQKRDLHDQFQ
HQLKCSNDSFSVIADYFGRGVFNKLTLLTDPPTARLTSSLEAGLQRDLLMHSRRGT*

Gene Symbol:VPS11
Accession:NM_001378219
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPAFGSAASKFLCLPPGITVCDSGRGSLVFGDMEGQIWFLPRSLQLTGF
QAYKLRVTHLYQLKQHNILASVGEDEEGINPLVKIWNLEKRDGGNPLCTRIFPAIPGTEPTVVSCLTVHENLNFMAIGFT
DGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTENVQSYIVSGKDYPRVELDTHGCGLRCSALSD
PSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIAHWFRGYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDLCNKF
IAYSTVFEDVVDVLAEWGSLYVLTRDGRVHALQEKDTQTKLEMLFKKNLFEMAINLAKSQHLDSDGLAQIFMQYGDHLYS
KGNHDGAVQQYIRSVWRTIGKLEPSYVIRKFLDAQRIHNLTAYLQTLHRQSLANADHTTLLLNCYTKLKDSSKLEEFIKK
KSESEVHFDVETAIKVLRQAGYYSHALYLAENHAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHI
PEQTTQLLKGLCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYDTLLELRLQNWAH
EKDPQVKEKLHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYLYEQGKLFQQIMHYHMQHEQYRQVISVCERHGEQD
PSLWEQALSYFARKEEDCKEYVAAVLKHIENKNLMPPLLVVQTLAHNSTATLSVIRDYLVQKLQKQSQQIAQDELRVRRY
REETTRIRQEIQELKASPKIFQKTKCSICNSALELPSVHFLCGHSFHQHCFESYSESDADCPTCLPENRKVMDMIRAQEQ
KRDLHDQFQHQLKCSNDSFSVIADYFGRGVFNKLTLLTDPPTARLTSSLEAGLQRDLLMHSRRGT*

Gene Symbol:VPS11
Accession:NR_165451
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165447
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165448
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165453
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165452
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165449
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165450
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:XR_947859
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NR_165454
Location:EXON;NON-CODING

Gene Symbol:VPS11
Accession:NM_001378221
Location:INTRON

Gene Symbol:VPS11
Accession:XM_047427256
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000994738 CLINVAR
dbSNP (RS) rs1592172912 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130006887 CLINVAR
  VPS11 CLINVAR
OMIM 608549 CLINVAR