RGD:13472478 Rat Genome Database

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Variant: RGD:13472478 -  Homo sapiens

RGD ID: 13472478
RS ID: rs770476916
ClinVar ID: CV446381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,916,377
GRCh38 22 24,520,409
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.24520409G>A
NP_057411.1:p.Ala272Thr
NG_012858.1:g.30127G>A
NC_000022.10:g.24916377G>A
More...
10/12/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:UPB1
Accession:NM_016327
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDM
VVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGHPVFQTQFGRIAVNICYGRHHPL
NWLMYSINGAEIIFNPSATIGALSESLWPIETRNAAIANHCFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYGSSYVA
APDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE*

Gene Symbol:UPB1
Accession:XM_011530223
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYME
GNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIETRNAAIANHCFTCAINRVGTIM
NSPKAPSRFLPRLSNSPLAQGWLLSRSV*

Gene Symbol:UPB1
Accession:XM_047441404
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYME
GNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIETRNAAIANHCFTCAINRVGTLT
RTLATFMARAMWQPLTAAGLLGCPVAGMDC*

Gene Symbol:UPB1
Accession:XM_047441405
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNR
IPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTAGLGHAGHSFQIYTTPRWLKPSGQRISMPFAFCTREKL
PWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNERVPVAH
RDQKRSHCQSLLHLRHQSSGHRALPERVYLGRWKESSPGLWLLLWLELCGSP*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000519139 CLINVAR
dbSNP (RS) rs770476916 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene UPB1 CLINVAR
OMIM 606673 CLINVAR