RGD:15156086 Rat Genome Database

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Variant: RGD:15156086 -  Homo sapiens

RGD ID: 15156086
RS ID: rs138892317
ClinVar ID: CV696939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 102,965,608
GRCh38 2 102,349,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_057316.3:p.Arg396His
NM_016232.5:c.1187G>A
NC_000002.12:g.102349148G>A
NC_000002.11:g.102965608G>A
More... 		07/16/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL1RL1
Accession:XM_006712839
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 396
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFWILAILTILMYSTAAKFSKQSWGLENEALIVRCPRQGKPSYTVDWYYSQTNKSIPTQERNRVFASGQLLKFLPAAVA
DSGIYTCIVRSPTFNRTGYANVTIYKKQSDCNVPDYLMYSTVSGSEKNSKIYCPTIDLYNWTAPLEWFKNCQALQGSRYR
AHKSFLVIDNVMTEDAGDYTCKFIHNENGANYSVTATRSFTVKDEQGFSLFPVIGAPAQNEIKEVEIGKNANLTCSACFG
KGTQFLAAVLWQLNGTKITDFGEPRIQQEEGQNQSFSNGLACLDMVLRIADVKEEDLLLQYDCLALNLHGLRRHTVRLSR
KNPIDHHSIYCIIAVCSVFLMLINVLVIILKMFWIEATLLWRDIAKPYKTRNDGKLYDAYVVYPRNYKSSTDGASHVEHF
VHQILPDVLENKCGYTLCIYGRDMLPGEDVVTAVETNIRKSRRHIFILTPQITHNKEFAYEQEVALHCALIQNDAKVILI
EMEALSELDMLQAEALQDSLQHLMKVQGTIKWREDHIANKRSLNSKFWKHVRYQMPVPSKIPRKASSLTPLAAQKQ*

Gene Symbol:IL1RL1
Accession:NM_016232
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 396
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFWILAILTILMYSTAAKFSKQSWGLENEALIVRCPRQGKPSYTVDWYYSQTNKSIPTQERNRVFASGQLLKFLPAAVA
DSGIYTCIVRSPTFNRTGYANVTIYKKQSDCNVPDYLMYSTVSGSEKNSKIYCPTIDLYNWTAPLEWFKNCQALQGSRYR
AHKSFLVIDNVMTEDAGDYTCKFIHNENGANYSVTATRSFTVKDEQGFSLFPVIGAPAQNEIKEVEIGKNANLTCSACFG
KGTQFLAAVLWQLNGTKITDFGEPRIQQEEGQNQSFSNGLACLDMVLRIADVKEEDLLLQYDCLALNLHGLRRHTVRLSR
KNPIDHHSIYCIIAVCSVFLMLINVLVIILKMFWIEATLLWRDIAKPYKTRNDGKLYDAYVVYPRNYKSSTDGASHVEHF
VHQILPDVLENKCGYTLCIYGRDMLPGEDVVTAVETNIRKSRRHIFILTPQITHNKEFAYEQEVALHCALIQNDAKVILI
EMEALSELDMLQAEALQDSLQHLMKVQGTIKWREDHIANKRSLNSKFWKHVRYQMPVPSKIPRKASSLTPLAAQKQ*

Gene Symbol:IL1RL1
Accession:NM_001282408
Location:INTRON

Gene Symbol:IL1RL1
Accession:XM_011512151
Location:INTRON

Gene Symbol:IL1RL1
Accession:NM_003856
Location:INTRON

Gene Symbol:IL1RL1
Accession:NR_104167
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000946625 CLINVAR
dbSNP (RS) rs138892317 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL1RL1 CLINVAR
OMIM 601203 CLINVAR