RGD:401739692 Rat Genome Database

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Variant: RGD:401739692 -  Homo sapiens

RGD ID: 401739692
ClinVar ID: CV2704638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF839  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 102,792,913
GRCh38 14 102,326,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_169569.1:n.900C>G
NM_018335.3:c.880C>G
NP_001254756.1:p.Gln178Glu
NP_001254757.1:p.Gln178Glu
More... 		04/20/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF839
Accession:NM_018335
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTE
PQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKL
KKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEK
SYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQ
SVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDRE
DLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGI
TEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHAL
AAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQV
AAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPL
EKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHE
LLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001267827
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGP
QLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGA
ESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGC
LRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVT
DAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001267828
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGP
QLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGA
ESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGC
LRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVT
DAEGRACGWAR*

Gene Symbol:ZNF839
Accession:XM_006720203
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFHHVGQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSD
LCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKT
RSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGL
ARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETL
PSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALP
QLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKE
IHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPV
NVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENA
LEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDS
VAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQ
IFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:XM_011536945
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQGSLSAFRIISGAFERADLGASPQEIRFSRSAGTEQLEAICVKVTSGETKGQERPMLLPTTIQPQ
TARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSML
TPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSEL
CVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLS
LTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQR
RAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHK
MVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLA
SVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEA
RRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGH
AEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNR
FPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWA
R*

Gene Symbol:ZNF839
Accession:XM_011536946
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQGSLSAFRIISGAFERADLGASPQEIRFSRSAGTEQLEAICVKVTSGETKGQERPMLLPTTIQPQ
TARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSML
TPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSEL
CVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLS
LTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQR
RAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVAESLGITEFLRKKEIHPDNLGP
KHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRS
EESHTTTVSGGNGSVFQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQD
TWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYR
TVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDG
LILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:XM_011536949
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQGSLSAFRIISGAFERADLGASPQEIRFSRSAGTEQLEAICVKVTSGETKGQERPMLLPTTIQPQ
TARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSML
TPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSEL
CVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLS
LTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQR
RAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHK
MVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLA
SVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:XM_011536950
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQGSLSAFRIISGAFERADLGASPQEIRFSRSAGTEQLEAICVKVTSGETKGQERPMLLPTTIQPQ
TARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSML
TPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSEL
CVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLS
LTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQR
RAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVAESLGITEFLRKKEIHPDNLGP
KHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVT
DAEGRACGWAR*

Gene Symbol:ZNF839
Accession:XM_011536948
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRLALNSWPQAVLPPQHPKALRLQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQL
LRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFIS
NLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRP
KSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTE
SARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARL
KEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHKMVKKMCQDYLSSSGLCSQETLEIN
NDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRG
REKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSG
EPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSV
LPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAM
AFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385075
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385069
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQAL
ANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPP
GGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLS
GDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGR
ACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385076
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385070
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVAESLGITEFLRK
KEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSP
PVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGE
NALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSV
DSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQ
KQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385071
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAK
PFFPAIYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGA
SSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSV
FQAGPQLQALANLEARRGSIGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLS
SGGGAESLPPGGPGHAEAGHLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSL
LTEGCLRSLSGDLNRFPCGMEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEED
IVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385074
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTEPQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAP
KAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKLKKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGH
LSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEKSYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTL
RGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQSVDVEETLPSEPENGALLRSERYQGPRRRACSETLA
ESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDREDLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPA
IYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKR
EREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385072
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTE
PQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKL
KKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEK
SYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQ
SVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDRE
DLVELALPQLAQVVTVYEFLLMKVEKDHLAKPFFPAIYKEFEELHKMVKKMCQDYLSSSGLCSQETLEINNDKVAESLGI
TEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKRPRREALSNDTTESLAANSRGREKPRPLHAL
AAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385065
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTE
PQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKL
KKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEK
SYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQ
SVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDRE
DLVELALPQLAQVVTVYEFLLMKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKR
PRREALSNDTTESLAANSRGREKPRPLHALAAGFSPPVNVTVSPRSEESHTTTVSGGNGSVFQAGPQLQALANLEARRGS
IGAALSSRDVSGLPVYAQSGEPRRLTQAQVAAFPGENALEHSSDQDTWDSLRSPGFCSPLSSGGGAESLPPGGPGHAEAG
HLGKVCDFHLNHQQPSPTSVLPTEVAAPPLEKILSVDSVAVDCAYRTVPKPGPQPGPHGSLLTEGCLRSLSGDLNRFPCG
MEVHSGQRELESVVAVGEAMAFEISNGSHELLSQGQKQIFIQTSDGLILSPPGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NM_001385073
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEPEAGGGSEDGGGGGGPAPPGQSGSVARVAPLGPEQLRQVLEQVTKAQPPPPPPPFVLRDAARRLRDAAQQAALQR
GRGTEPPRLPRLLPPQQLEAICVKVTSGETKGQERPMLLPTTIQPQTARKSQLPRGNSCLVGLHIASPQLLRVQPLVRTE
PQSCFLSDLCQPPAQGFVQRPLPALQVVPAKRVPAPKAPDEQGSMLTPLSASDPLAVTSLSSSSAHPFISNLHTRHTEKL
KKSLKVKTRSGRVSRPPKYKAKDYKFIKTEDLADGHLSDSDDYSELCVEEDEDERERHALFDLSSCSLRPKSFKCQTCEK
SYIGKGGLARHFKLNPGHGQLDPEMVLSEKASGSTLRGCTEERTLSLTSLGLSMPADPCEGGARSCLVTESARGGLQNGQ
SVDVEETLPSEPENGALLRSERYQGPRRRACSETLAESRTAVLQQRRAAQLPGGPAAAGEQRASPSKARLKEFLQQCDRE
DLVELALPQLAQVVTVYEFLLMKVAESLGITEFLRKKEIHPDNLGPKHLSRDMDGEQLEGASSEKREREAAEEGLASVKR
PRREALSNDTTESLAANSRGREKPRPLHALAAGTIVSQEEDIVTVTDAEGRACGWAR*

Gene Symbol:ZNF839
Accession:NR_169567
Location:EXON;NON-CODING

Gene Symbol:ZNF839
Accession:NR_169568
Location:EXON;NON-CODING

Gene Symbol:ZNF839
Accession:NR_169569
Location:EXON;NON-CODING

Gene Symbol:ZNF839
Accession:NR_169566
Location:EXON;NON-CODING

Gene Symbol:ZNF839
Accession:NR_169565
Location:EXON;NON-CODING

Gene Symbol:ZNF839
Accession:XM_017021449
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003292155 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF839 CLINVAR