RGD:14721467 Rat Genome Database

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Variant: RGD:14721467 -  Homo sapiens

RGD ID: 14721467
RS ID: rs1573301763
ClinVar ID: CV628417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 113,885,310
GRCh38 2 113,127,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000577.5:c.55G>T
NM_001318914.2:c.7G>T
NM_173843.3:c.7G>T
LRG_188:g.14841G>T
More... 		07/16/2018 missense variant uncertain significance 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_047444185
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444186
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173843
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001318914
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_000577
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALETICRPSGRKSSKMQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSG
DETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001379360
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173842
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHA
LFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTN
MPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_011511121
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444184
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173841
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALADLYEEGGGGGGEGEDNADSKETICRPSGRKSSKMQSFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIE
PHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVS
LTNMPDEGVMVTKFYFQEDE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813494 CLINVAR
dbSNP (RS) rs1573301763 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR