RGD:38477520 Rat Genome Database

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Variant: RGD:38477520 -  Homo sapiens

RGD ID: 38477520
RS ID: rs28938778
ClinVar ID: CV930790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL36RN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 113,820,155
GRCh38 2 113,062,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_730t1:c.369G>A
LRG_730t2:c.369G>A
NM_012275.3:c.369G>A
NM_173170.1:c.369G>A
More...
09/21/2022 synonymous variant likely benign|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: T to T (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGAKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*

Gene Symbol:IL36RN
Accession:NM_012275
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGAKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*

Gene Symbol:IL36RN
Accession:NM_173170
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTL
EPVNIMELYLGAKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001205120 CLINVAR
  RCV002264220 CLINVAR
dbSNP (RS) rs28938778 CLINVAR
MedGen C0343055 CLINVAR
  C3890737 CLINVAR
NCBI Gene IL36RN CLINVAR
OMIM 605507 CLINVAR
  614204 CLINVAR
SNOMED CT 238612002 CLINVAR