RGD:156199241 Rat Genome Database

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Variant: RGD:156199241 -  Homo sapiens

RGD ID: 156199241
ClinVar ID: CV2365288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPSB4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 140,785,512
GRCh38 3 141,066,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_080862.3:c.566G>T
NC_000003.12:g.141066670G>T
NC_000003.11:g.140785512G>T
NM_080862.1:c.566G>T
More... 		09/14/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPSB4
Accession:NM_080862
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQKLSGSLKSVEVREPALRPAKRELRGAEPGRPARLDQLLDMPAAGLAVQLRHAWNPEDRSLNVFVKDDDRLTFHRHPV
AQSTDGIRGKVGHARGLHAWQINWPARQRGTHAVVGVATARAPLHSVGYTALVGSDAESWGWDLGRSRLYHDGKNQPGVA
YPAFLGPDEAFALPDSLLVVLDMDEGTLIFIVDGQYLGVAFRGLKGKKLYPVVSAVWGHCEVTMRYINGLDPEPLPLMDL
CRRSIRSALGRQRLQDISSLPLPQSLKNYLQYQ*

Gene Symbol:SPSB4
Accession:XM_017007509
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQKLSGSLKSVEVREPALRPAKRELRGAEPGRPARLDQLLDMPAAGLAVQLRHAWNPEDRSLNVFVKDDDRLTFHRHPV
AQSTDGIRGKVGHARGLHAWQINWPARQRGTHAVVGVATARAPLHSVGYTALVGSDAESWGWDLGRSRLYHDGKNQPGVA
YPAFLGPDEAFALPDSLLVVLDMDEGTLIFIVDGQYLGVAFRGLKGKKLYPVVSAVWGHCEVTMRYINGLDQN*

Gene Symbol:SPSB4
Accession:XR_924215
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002985100 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SPSB4 CLINVAR
OMIM 611660 CLINVAR