RGD:401892207 Rat Genome Database

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Variant: RGD:401892207 -  Homo sapiens

RGD ID: 401892207
ClinVar ID: CV2777324
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPR183  UBAC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 99,947,369
GRCh38 13 99,295,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_004951.5:c.1031G>A
NM_177967.4:c.285-18982C>T
NM_001144072.2:c.390-18982C>T
NC_000013.11:g.99295115C>T
More... 		07/19/2023 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:GPR183
Accession:NM_004951
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDIQMANNFTPPSATPQGNDCDLYAHHSTARIVMPLHYSLVFIIGLVGNLLALVVIVQNRKKINSTTLYSTNLVISDILF
TTALPTRIAYYAMGFDWRIGDALCRITALVFYINTYAGVNFMTCLSIDRFIAVVHPLRYNKIKRIEHAKGVCIFVWILVF
AQTLPLLINPMSKQEAERITCMEYPNFEETKSLPWILLGACFIGYVLPLIIILICYSQICCKLFRTAKQNPLTEKSGVNK
KALNTIILIIVVFVLCFTPYHVAIIQHMIKKLRFSNFLECSQRHSFQISLHFTVCLMNFNCCMDPFIYFFACKGYKRKVM
RMLKRQVSVSISSAVKSAPEENSLEMTETQMMIHSKSSNGK*

Gene Symbol:UBAC2
Accession:NM_177967
Location:INTRON

Gene Symbol:UBAC2
Accession:XM_047430286
Location:INTRON

Gene Symbol:UBAC2
Accession:XM_011521082
Location:INTRON

Gene Symbol:UBAC2
Accession:XM_011521083
Location:INTRON

Gene Symbol:UBAC2
Accession:NM_001144072
Location:INTRON

Gene Symbol:UBAC2
Accession:XM_017020553
Location:INTRON

Gene Symbol:UBAC2
Accession:NR_026644
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004354337 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GPR183 CLINVAR
  UBAC2 CLINVAR
OMIM 605741 CLINVAR