RGD:127263851 Rat Genome Database

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Variant: RGD:127263851 -  Homo sapiens

RGD ID: 127263851
RS ID: rs775348905
ClinVar ID: CV1061681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL11RA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,658,579
GRCh38 9 34,658,582
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142784.3:c.709C>T
NG_028966.1:g.11398C>T
NC_000009.12:g.34658582C>T
NC_000009.11:g.34658579C>T
More... 		10/18/2017 non-coding transcript variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:IL11RA
Accession:NM_001142784
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSCSGLSRVLVAVATALVSASSPCPQAWGPPGVQYGQPGRSVKLCCPGVTAGDPVSWFRDGEPKLLQGPDSGLGHELV
LAQADSTDEGTYICQTLDGALGGTVTLQLGYPPARPVVSCQAADYENFSCTWSPSQISGLPTRYLTSYRKKTVLGADSQR
RSPSTGPWPCPQDPLGAARCVVHGAEFWSQYRINVTEVNPLGASTRLLDVSLQSILRPDPPQGLRVESVPGYPRRL*ASW
TYPASWPCQPHFLLKFRLQYRPAQHPAWSTVEPAGLEEVITDAVAGLPHAVRVSARDFLDAGTWSTWSPEAWGTPSTGTI
PKEIPAWGQLHTQPEVEPQVDSPAPPRPSLQPHPRLLDHRDSVEQVAVLASLGILSFLGLVAGALALGLWLRLRRGGKDG
SPKPGFLASVIPVDRRPGAPNL*

Gene Symbol:IL11RA
Accession:NR_052010
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:21741611   PMID:24498618   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001388063 CLINVAR
dbSNP (RS) rs775348905 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL11RA CLINVAR
OMIM 600939 CLINVAR