RGD:152046952 Rat Genome Database

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Variant: RGD:152046952 -  Homo sapiens

RGD ID: 152046952
RS ID: rs1457547311
ClinVar ID: CV1600468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 113,888,659
GRCh38 2 113,131,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379360.1:c.141G>A
NM_001318914.2:c.141G>A
NM_173843.3:c.141G>A
LRG_188:g.18190G>A
More... 		01/26/2021 synonymous 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:XM_011511121
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_000577
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSG
DETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173842
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHA
LFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTN
MPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001379360
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173843
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444184
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444186
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001318914
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173841
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALADLYEEGGGGGGEGEDNADSKETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIE
PHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVS
LTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444185
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002088659 CLINVAR
dbSNP (RS) rs1457547311 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR