RGD:156061453 Rat Genome Database

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Variant: RGD:156061453 -  Homo sapiens

RGD ID: 156061453
ClinVar ID: CV2320913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHAF1A  UBXN6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 4,446,536
GRCh38 19 4,446,539
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.722A>G
NM_025241.3:c.881A>G
NC_000019.10:g.4446539T>C
NC_000019.9:g.4446536T>C
More... 		12/02/2022 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: N to T (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKFFQEFKADIKFKSAGPGQKLKESVGEKAHKEKPNQPAPRPPRQGPTNEAQMAAAAALARLEQKQSRAWGPTSQDTIR
NQVRKELQAEATVSGSPEAPGTNVVSEPREEGSAHLAVPGVYFTCPLTGATLRKDQRDACIKEAILLHFSTDPVAASIMK
IYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEGTHEFFEAIGFQKVLLPAQDQEDPEEFY
VLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFFTLTAEEIKREQRLRSEAVERLSVLRTK
AMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSDWLPFELLASGGQKLSEDENLALNECGL
VPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:NM_001171091
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSEPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
TLTAEEIKREQRLRSEAVERLSVLRTKAMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSD
WLPFELLASGGQKLSEDENLALNECGLVPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:XM_017027325
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSEPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
TLTAEEIKREQRLRSEAVERLSVLRTKAMREKEEQRGLRKYNYTLLRVRLPDGCLLQGTFYARERLGAVYGFVREALQSD
WLPFELLASGGQKLSEDENLALNECGLVPSALLTFSWDMAVLEDIKAAGAEPDSILKPELLSAIEKLL*

Gene Symbol:UBXN6
Accession:XM_047439470
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAALARLEQKQSRAWGPTSQDTIRNQVRKELQAEATVSGSPEAPGTNVVSEPREEGSAHLAVPGVYFTCPLTGATLR
KDQRDACIKEAILLHFSTDPVAASIMKIYTFNKDQDRVKLGVDTIAKYLDNIHLHPEEEKYRKIKLQNKVFQERINCLEG
THEFFEAIGFQKVLLPAQDQEDPEEFYVLSETTLAQPQSLERHKEQLLAAEPVRAKLDRQRRVFQPSPLASQFELPGDFF
TLTAEEIKREQRLRHFLRSGAAGGGVRVRPGGPAERLAAF*

Gene Symbol:CHAF1A
Accession:XR_007066505
Location:EXON;NON-CODING

Gene Symbol:CHAF1A
Accession:XR_007066507
Location:EXON;NON-CODING

Gene Symbol:CHAF1A
Accession:NM_005483
Location:INTRON

Gene Symbol:CHAF1A
Accession:XM_011527605
Location:INTRON

Gene Symbol:CHAF1A
Accession:XM_011527607
Location:INTRON

Gene Symbol:CHAF1A
Accession:XM_047438011
Location:INTRON

Gene Symbol:CHAF1A
Accession:XM_047438012
Location:INTRON

Gene Symbol:CHAF1A
Accession:XM_047438013
Location:INTRON

Gene Symbol:CHAF1A
Accession:XR_936135
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002925074 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CHAF1A CLINVAR
  UBXN6 CLINVAR
OMIM 601246 CLINVAR
  611946 CLINVAR