RGD:8643923 Rat Genome Database

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Variant: RGD:8643923 -  Homo sapiens

RGD ID: 8643923
RS ID: rs72558475
ClinVar ID: CV103265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 38,271,209
GRCh38 X 38,411,956
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.64474C>A
NC_000023.11:g.38411956C>A
NC_000023.10:g.38271209C>A
NP_000522.3:p.Ser321Ter
More... 		nonsense|stop-gain pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_001407092
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
*LVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:NM_000531
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
*LVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:XM_017029556
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11793468  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083622 CLINVAR
dbSNP (RS) rs72558475 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR