RGD:8625706 Rat Genome Database

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Variant: RGD:8625706 -  Homo sapiens

RGD ID: 8625706
ClinVar ID: CV80830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 123,374,990
GRCh38 4 122,453,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000586.3:c.226C>T
NG_016779.1:g.7661C>T
NC_000004.12:g.122453835G>A
NC_000004.11:g.123374990G>A
More...
missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:IL2
Accession:NM_000586
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYRMQLLSCIALSLALVTNSAPTSSSTKKTQLQLEHLLLDLQMILNGINNYKNPKLTRMLTFKFYMPKKATELKHFQCLE
EELKPLEEVLNLAQSKNFHLRPRDLISNINVIVLELKGSETTFMCEYADETATIVEFLNRWITFCQSIISTLT*

Variant Samples