RGD:8643690 Rat Genome Database

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Variant: RGD:8643690 -  Homo sapiens

RGD ID: 8643690
RS ID: rs72554330
ClinVar ID: CV103031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,229,064
GRCh38 X 38,369,811
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.22329C>T
NC_000023.11:g.38369811C>T
NC_000023.10:g.38229064C>T
NP_000522.3:p.Gln78Ter
More...
nonsense|stop-gain pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_000531
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLL*GK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:XM_017029556
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLL*GK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKILKKTNMTATYNSQKVVLSPSL*

Gene Symbol:OTC
Accession:NM_001407092
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLL*GK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Variant Samples
Additional References at PubMed
PMID:16786505  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083368 CLINVAR
dbSNP (RS) rs72554330 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR