RGD:8643672 Rat Genome Database

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Variant: RGD:8643672 -  Homo sapiens

RGD ID: 8643672
RS ID: rs72554318
ClinVar ID: CV103013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,226,622
GRCh38 X 38,367,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008471.1:g.19887A>T
NC_000023.11:g.38367369A>T
NC_000023.10:g.38226622A>T
NP_000522.3:p.Glu52Asp
More... 		02/28/2022 missense|missense variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:XM_017029556
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEDIKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKILKKTNMTATYNSQKVVLSPSL*

Gene Symbol:OTC
Accession:NM_000531
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEDIKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:NM_001407092
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEDIKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*
Variant Samples
Additional References at PubMed
PMID:10946359  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083350 CLINVAR
dbSNP (RS) rs72554318 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR