RGD:156096414 Rat Genome Database

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Variant: RGD:156096414 -  Homo sapiens

RGD ID: 156096414
ClinVar ID: CV2210435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBXN6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 4,452,482
GRCh38 19 4,452,485
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171091.2:c.161A>G
NM_025241.3:c.320A>G
NC_000019.10:g.4452485T>C
NC_000019.9:g.4452482T>C
More...
08/30/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBXN6
Accession:NM_025241
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKFFQEFKADIKFKSAGPGQKLKESVGEKAHKEKPNQPAPRPPRQGPTNEAQMAAAAALARLEQKQSRAWGPTSQDTIR
NQVRKELQAEATVSGSPEAPGTNVVSGPREEGSAHLAVPGVYFTCPLTGATLRKDQRDACIKEAILLHFSTDPVAASIMK
IYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEGTHEFFEAIGFQKVLLPAQDQEDPEEFY
VLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFFNLTAEEIKREQRLRSEAVERLSVLRTK
AMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSDWLPFELLASGGQKLSEDENLALNECGL
VPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:NM_001171091
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSGPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
NLTAEEIKREQRLRSEAVERLSVLRTKAMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSD
WLPFELLASGGQKLSEDENLALNECGLVPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:XM_017027325
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSGPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
NLTAEEIKREQRLRSEAVERLSVLRTKAMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSD
WLPFELLASGGQKLSEDENLALNECGLVPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:XM_047439470
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSGPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
NLTAEEIKREQRLRHFLRSGAAGGGVRVRPGGPAERLAAF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002661679 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene UBXN6 CLINVAR
OMIM 611946 CLINVAR