RGD:28899111 Rat Genome Database

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Variant: RGD:28899111 -  Homo sapiens

RGD ID: 28899111
RS ID: rs1562113724
ClinVar ID: CV893779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL12B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 158,750,321
GRCh38 5 159,323,313
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_71t1:c.105G>A
NM_002187.3:c.105G>A
LRG_71:g.12161G>A
NG_009618.1:g.12161G>A
More... 		09/12/2019 synonymous variant conflicting interpretations of pathogenicity|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: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVK
EFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSR
GSSDPQGVTCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWS
EWASVPCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155702 CLINVAR
dbSNP (RS) rs1562113724 CLINVAR
MedGen C4013948 CLINVAR
NCBI Gene IL12B CLINVAR
OMIM 161561 CLINVAR
  614890 CLINVAR