RGD:13489563 Rat Genome Database

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Variant: RGD:13489563 -  Homo sapiens

RGD ID: 13489563
RS ID: rs565345523
ClinVar ID: CV454853
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL12B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 158,747,505
GRCh38 5 159,320,497
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_71t1:c.506C>T
LRG_71:g.14977C>T
NG_009618.1:g.14977C>T
NC_000005.10:g.159320497G>A
More... 		07/24/2017 missense variant likely benign 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: T to M (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVK
EFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSR
GSSDPQGVMCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWS
EWASVPCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555413 CLINVAR
dbSNP (RS) rs565345523 CLINVAR
MedGen C4013948 CLINVAR
NCBI Gene IL12B CLINVAR
OMIM 161561 CLINVAR
  614890 CLINVAR