RGD:26915360 Rat Genome Database

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Variant: RGD:26915360 -  Homo sapiens

RGD ID: 26915360
RS ID: rs1685662918
ClinVar ID: CV824717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL36RN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 113,820,061
GRCh38 2 113,062,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_730t1:c.275C>T
LRG_730t2:c.275C>T
NM_012275.3:c.275C>T
NM_173170.1:c.275C>T
More... 		02/18/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL36RN
Accession:XM_047443918
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGVKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*

Gene Symbol:IL36RN
Accession:NM_173170
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGVKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*

Gene Symbol:IL36RN
Accession:NM_012275
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGVKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001038906 CLINVAR
dbSNP (RS) rs1685662918 CLINVAR
MedGen C0343055 CLINVAR
NCBI Gene IL36RN CLINVAR
OMIM 605507 CLINVAR
  614204 CLINVAR
SNOMED CT 238612002 CLINVAR