RGD:156255222 Rat Genome Database

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Variant: RGD:156255222 -  Homo sapiens

RGD ID: 156255222
ClinVar ID: CV2311590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASTKD5  UBOX5  UBOX5-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,128,164
GRCh38 20 3,147,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_021826.4:c.1553A>G
NP_068598.1:p.Asp518Gly
NM_001267584.2:c.-42+12248A>G
NM_014948.4:c.-42+12248A>G
More... 		10/26/2022 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: D to A (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATLKSLKLVRYRAFCSPSAFGAVRSVSYWNVSSTQHGGQDPPEHISLCHSAKKVKNICSTFSSRRILTTSSAHPGLEF
SKTSSSKASTLQLGSPRATGVDEEDVEVFDSFENMRVFLQLRPEYRVHSYNASETSQLLSVSEGELILHKVRVNQNNLQA
QVIVDYLCKLSSLPAEQHPVLLGSTSFALLCQLSVKKIQLFDTQDLINVLKAFVILGIPHSHSMLDVYETKCCHQVWEMN
MDQLLLVADLWRYLGRKVPRFLNIFSSYLNLHWKDLSLSQLVHLIYVIGENRQVSQDLMQKLESLILKYIDLINLEEVGT
ICLGFFKSSTNLSEFVMRKIGDLACANIQHLSSRSLVNIVKMFRFTHVDHINFMKQIGEIAPQRIPSLGVQGVMHLTLYC
SALRFLNEGVMNAVAASLPPRVAHCRSKDVAKILWSFGTLNYKPPNAEEFYSSLISEIHRKMPEFNQYPEHLPTCLLGLA
FLEYFPVELIDFALSPGFVRLAQERTKFDLLKELYTLAGTVGIECPDYRGNRLSTHLQQEGSELLWYLAEKDMNSKPEFL
ETVFLLETMLGGPQYVKHHMILPHTRSSDLEVQLDVNLKPLPFNREATPAENVAKLRLEHVGVSLTDDLMNKLLKGKARG
HFQGKTESEPGQQPMELENKAAVPLGGFLCNVADKSGAMEMAGLCPAACMQTPRMKLAVQFTNRNQYCYGSRDLLGLHNM
KRRQLARLGYRVVELSYWEWLPLLKRTRLEKLAFLHEKVFTSAL*

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

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Database
Acc Id
Source(s)
ClinVar RCV004168402 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FASTKD5 CLINVAR
  UBOX5 CLINVAR
  UBOX5-AS1 CLINVAR
OMIM 614272 CLINVAR
  619675 CLINVAR