RGD:152058511 Rat Genome Database

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Variant: RGD:152058511 -  Homo sapiens

RGD ID: 152058511
RS ID: rs2104437489
ClinVar ID: CV1638336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 113,877,680
GRCh38 2 113,120,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173843.3:c.-209-1345A>G
NM_001318914.2:c.-235A>G
NM_000577.5:c.10+2075A>G
NM_173841.3:c.48A>G
More... 		10/07/2022 5 prime utr variant likely benign CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL1RN
Accession:NM_001318914
Location:5UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_047444184
Location:5UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_047444185
Location:5UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_011511121
Location:5UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_173843
Location:5UTRS;INTRON

Gene Symbol:IL1RN
Accession:XM_047444186
Location:5UTRS;INTRON

Gene Symbol:IL1RN
Accession:NM_173841
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALADLYEEGGGGGGEGEDNADSKETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIE
PHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVS
LTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001379360
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_000577
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173842
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002196730 CLINVAR
dbSNP (RS) rs2104437489 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR