RGD:14718380 Rat Genome Database

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Variant: RGD:14718380 -  Homo sapiens

RGD ID: 14718380
RS ID: rs762144588
ClinVar ID: CV633688
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL12B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 158,753,721
GRCh38 5 159,326,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_71t1:c.70T>C
LRG_71:g.8761T>C
NG_009618.1:g.8761T>C
NC_000005.10:g.159326713A>G
More... 		07/05/2018 missense variant uncertain significance Immunodeficiency 29
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL12B
Accession:NM_002187
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHQQLVISWFSLVFLASPLVAIRELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVK
EFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSR
GSSDPQGVTCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWS
EWASVPCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000795785 CLINVAR
dbSNP (RS) rs762144588 CLINVAR
MedGen C4013948 CLINVAR
NCBI Gene IL12B CLINVAR
OMIM 161561 CLINVAR
  614890 CLINVAR