RGD:15166613 Rat Genome Database

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Variant: RGD:15166613 -  Homo sapiens

RGD ID: 15166613
RS ID: rs780550512
ClinVar ID: CV752428
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL18  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 112,020,805
GRCh38 11 112,150,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001562.4:c.216T>G
NG_028143.1:g.19036T>G
NC_000011.10:g.112150082A>C
NC_000011.9:g.112020805A>C
More... 		06/14/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL18
Accession:NM_001243211
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEPVEDNCINFVAMKFIDNTLYFIENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCRDNAPRTIFI
ISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQFESSSYEGYFLACE
KERDLFKLILKKEDELGDRSIMFTVQNED*

Gene Symbol:IL18
Accession:NM_001386420
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEPVEDNCINFVAMKFIDNTLYFIAEDDENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCRDNAPR
TIFIISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQFESSSYEGYF
LACEKERDLFKLILKKEDELGDRSIMFTVQNED*

Gene Symbol:IL18
Accession:XM_011542805
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEPVEDNCINFVAMKFIDNTLYFIENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCRDNAPRTIFI
ISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQFESSSYEGYFLACE
KERDLFKLILKKEDELGDRSIMFTVQNED*

Gene Symbol:IL18
Accession:NM_001562
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEPVEDNCINFVAMKFIDNTLYFIAEDDENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCRDNAPR
TIFIISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQFESSSYEGYF
LACEKERDLFKLILKKEDELGDRSIMFTVQNED*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926909 CLINVAR
dbSNP (RS) rs780550512 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IL18 CLINVAR
OMIM 600953 CLINVAR