RGD:28899109 Rat Genome Database

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Variant: RGD:28899109 -  Homo sapiens

RGD ID: 28899109
RS ID: rs767350741
ClinVar ID: CV893778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL12B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 158,749,469
GRCh38 5 159,322,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002187.2:c.415C>T
NP_002178.2:p.Arg139Cys
NG_009618.1:g.13013C>T
NC_000005.10:g.159322461G>A
More... 		03/30/2022 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: R to C (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVK
EFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGCFTCWWLTTISTDLTFSVKSSR
GSSDPQGVTCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWS
EWASVPCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155701 CLINVAR
dbSNP (RS) rs767350741 CLINVAR
MedGen C4013948 CLINVAR
NCBI Gene IL12B CLINVAR
OMIM 161561 CLINVAR
  614890 CLINVAR