RGD:14721473 Rat Genome Database

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Variant: RGD:14721473 -  Homo sapiens

RGD ID: 14721473
RS ID: rs369985188
ClinVar ID: CV636604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,584,631
GRCh38 8 132,572,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_135911.2:n.1832C>T
NM_001321962.2:c.1078C>T
NM_001321961.2:c.1264C>T
NM_012472.6:c.1324C>T
More... 		09/23/2018 non-coding transcript variant|nonsense uncertain significance CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF11
Accession:XM_006716538
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKS
MKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHME
KLEVDPSKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
R*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDY
SVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDN
SEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLA
VYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRS
REQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP
SKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
R*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_012472
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSD
RSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
R*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321966
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPK
VGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRR*PEPKIIPSEEDPTFEDNP
EVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
R*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVLPHGHRRRIPSTRKEKAQALASENVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIH
LKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEE
DKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKK
QEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVL
PAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQE
KKHTPRR*PEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NR_135908
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135906
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135910
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135913
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135912
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135907
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135905
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135909
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_073525
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135911
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:INTRON

Gene Symbol:DNAAF11
Accession:XR_007060728
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813498 CLINVAR
dbSNP (RS) rs369985188 CLINVAR
MedGen C3543826 CLINVAR
NCBI Gene LRRC6 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR