RGD:26916476 Rat Genome Database

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Variant: RGD:26916476 -  Homo sapiens

RGD ID: 26916476
RS ID: rs1754064448
ClinVar ID: CV830579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL12B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 158,747,337
GRCh38 5 159,320,329
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_71t1:c.674G>T
NM_002187.3:c.674G>T
LRG_71:g.15145G>T
NG_009618.1:g.15145G>T
More... 		11/21/2019 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: S to I (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVK
EFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSR
GSSDPQGVTCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTISFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWS
EWASVPCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001056375 CLINVAR
dbSNP (RS) rs1754064448 CLINVAR
MedGen C4013948 CLINVAR
NCBI Gene IL12B CLINVAR
OMIM 161561 CLINVAR
  614890 CLINVAR