RGD:13705439 Rat Genome Database

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Variant: RGD:13705439 -  Homo sapiens

RGD ID: 13705439
RS ID: rs1465759522
ClinVar ID: CV536771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL11RA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,657,047
GRCh38 9 34,657,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.34657047C>T
NG_028966.1:g.9866C>T
NC_000009.12:g.34657050C>T
NM_001142784.2:c.347C>T
More... 		04/17/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IL11RA
Accession:NM_001142784
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSCSGLSRVLVAVATALVSASSPCPQAWGPPGVQYGQPGRSVKLCCPGVTAGDPVSWFRDGEPKLLQGPDSGLGHELV
LAQADSTDEGTYICQTLDGALGGTVTLQLGYPPARLVVSCQAADYENFSCTWSPSQISGLPTRYLTSYRKKTVLGADSQR
RSPSTGPWPCPQDPLGAARCVVHGAEFWSQYRINVTEVNPLGASTRLLDVSLQSILRPDPPQGLRVESVPGYPRRLRASW
TYPASWPCQPHFLLKFRLQYRPAQHPAWSTVEPAGLEEVITDAVAGLPHAVRVSARDFLDAGTWSTWSPEAWGTPSTGTI
PKEIPAWGQLHTQPEVEPQVDSPAPPRPSLQPHPRLLDHRDSVEQVAVLASLGILSFLGLVAGALALGLWLRLRRGGKDG
SPKPGFLASVIPVDRRPGAPNL*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000657983 CLINVAR
dbSNP (RS) rs1465759522 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IL11RA CLINVAR
OMIM 600939 CLINVAR