RGD:28883594 Rat Genome Database

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Variant: RGD:28883594 -  Homo sapiens

RGD ID: 28883594
RS ID: rs1176402115
ClinVar ID: CV890945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,898,127
GRCh38 22 24,502,159
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016327.3:c.310G>A
NM_016327.2:c.310G>A
NP_057411.1:p.Val104Ile
NG_012858.2:g.11877G>A
More... 		04/27/2022 missense variant likely benign|uncertain significance Beta-ureidopropionase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UPB1
Accession:XM_047441405
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIIEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNERVPVAH
RGQKRSHCQSLLHLRHQSSGHRALPERVYLGRWKESSPGLWLLLWLELCGSP*

Gene Symbol:UPB1
Accession:NM_016327
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIIEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDM
VVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGHPVFQTQFGRIAVNICYGRHHPL
NWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYGSSYVA
APDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE*

Gene Symbol:UPB1
Accession:XM_011530223
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIIEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYME
GNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTIM
NSPKAPSRFLPRLSNSPLAQGWLLSRSV*

Gene Symbol:UPB1
Accession:XM_047441404
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIIEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYME
GNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTLT
RTLATFMARAMWQPLTAAGLLGCPVAGMDC*

Gene Symbol:UPB1
Accession:XR_001755249
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001150306 CLINVAR
  RCV002557236 CLINVAR
dbSNP (RS) rs1176402115 CLINVAR
MedGen C0950123 CLINVAR
  C1291512 CLINVAR
NCBI Gene UPB1 CLINVAR
OMIM 606673 CLINVAR
  613161 CLINVAR
SNOMED CT 124511000 CLINVAR