RGD:156081790 Rat Genome Database

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Variant: RGD:156081790 -  Homo sapiens

RGD ID: 156081790
ClinVar ID: CV2368836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SKP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 36,183,958
GRCh38 5 36,183,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001243120.2:c.*1825G>A
NM_005983.4:c.*1825G>A
NM_032637.4:c.1078G>A
NG_029643.3:g.36747G>A
More... 		01/09/2024 3 prime utr variant uncertain significance AllHighlyPenetrant

Gene Symbol:SKP2
Accession:NM_005983
Location:3UTRS;EXON

Gene Symbol:SKP2
Accession:NM_001243120
Location:3UTRS;EXON

Gene Symbol:SKP2
Accession:NM_032637
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRKHLQEIPDLSSNVATSFTWGWDSSKTSELLSGMGVSALEKEEPDSENIPQELLSNLGHPESPPRKRLKSKGSDKDFV
IVRRPKLNRENFPGVSWDSLPDELLLGIFSCLCLPELLKVSGVCKRWYRLASDESLWQTLDLTGKNLHPDVTGRLLSQGV
IAFRCPRSFMDQPLAEHFSPFRVQHMDLSNSVIEVSTLHGILSQCSKLQNLSLEGLRLSDPIVNTLAKNSNLVRLNLSGC
SGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYRKNLQKSDLSTLVRRCPNLVHLDLSDS
VMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLLVTRARVRIRLDSDIGCPQTYRTSKLKSSHKLFCQHVRVICIFVCD
FYFYRLVLKQ*

Gene Symbol:SKP2
Accession:XR_001742203
Location:EXON;NON-CODING

Gene Symbol:SKP2
Accession:XM_047417536
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004207798 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SKP2 CLINVAR
OMIM 601436 CLINVAR