RGD:401768534 Rat Genome Database

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Variant: RGD:401768534 -  Homo sapiens

RGD ID: 401768534
ClinVar ID: CV2716647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASTKD5  UBOX5  UBOX5-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 3,127,549
GRCh38 20 3,146,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001267584.2:c.-42+12863G>A
NM_014948.4:c.-42+12863G>A
NM_199415.3:c.-42+12863G>A
NM_021826.5:c.2168G>A
More... 		06/07/2023 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:UBOX5
Accession:NM_014948
Location:5UTRS;INTRON

Gene Symbol:UBOX5
Accession:NM_199415
Location:5UTRS;INTRON

Gene Symbol:UBOX5
Accession:NM_001267584
Location:5UTRS;INTRON

Gene Symbol:FASTKD5
Accession:NM_021826
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 723
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATLKSLKLVRYRAFCSPSAFGAVRSVSYWNVSSTQHGGQDPPEHISLCHSAKKVKNICSTFSSRRILTTSSAHPGLEF
SKTSSSKASTLQLGSPRATGVDEEDVEVFDSFENMRVFLQLRPEYRVHSYNASETSQLLSVSEGELILHKVRVNQNNLQA
QVIVDYLCKLSSLPAEQHPVLLGSTSFALLCQLSVKKIQLFDTQDLINVLKAFVILGIPHSHSMLDVYETKCCHQVWEMN
MDQLLLVADLWRYLGRKVPRFLNIFSSYLNLHWKDLSLSQLVHLIYVIGENRQVSQDLMQKLESLILKYIDLINLEEVGT
ICLGFFKSSTNLSEFVMRKIGDLACANIQHLSSRSLVNIVKMFRFTHVDHINFMKQIGEIAPQRIPSLGVQGVMHLTLYC
SALRFLNEGVMNAVAASLPPRVAHCRSKDVAKILWSFGTLNYKPPNAEEFYSSLISEIHRKMPEFNQYPEHLPTCLLGLA
FLEYFPVELIDFALSPGFVRLAQERTKFDLLKELYTLDGTVGIECPDYRGNRLSTHLQQEGSELLWYLAEKDMNSKPEFL
ETVFLLETMLGGPQYVKHHMILPHTRSSDLEVQLDVNLKPLPFNREATPAENVAKLRLEHVGVSLTDDLMNKLLKGKARG
HFQGKTESEPGQQPMELENKAAVPLGGFLCNVADKSGAMEMAGLCPAACMQTPRMKLAVQFTNRNQYCYGSRDLLGLHNM
KRLQLARLGYRVVELSYWEWLPLLKRTRLEKLAFLHEKVFTSAL*

Gene Symbol:UBOX5-AS1
Accession:NR_038395
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004327708 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FASTKD5 CLINVAR
  UBOX5 CLINVAR
  UBOX5-AS1 CLINVAR
OMIM 614272 CLINVAR
  619675 CLINVAR