RGD:401777156 Rat Genome Database

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Variant: RGD:401777156 -  Homo sapiens

RGD ID: 401777156
ClinVar ID: CV2721625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SKP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 36,181,990
GRCh38 5 36,181,888
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032637.4:c.1062-1952C>G
NM_005983.4:c.1132C>G
NM_001243120.2:c.490C>G
NG_029643.3:g.34779C>G
More... 		05/24/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SKP2
Accession:NM_005983
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRKHLQEIPDLSSNVATSFTWGWDSSKTSELLSGMGVSALEKEEPDSENIPQELLSNLGHPESPPRKRLKSKGSDKDFV
IVRRPKLNRENFPGVSWDSLPDELLLGIFSCLCLPELLKVSGVCKRWYRLASDESLWQTLDLTGKNLHPDVTGRLLSQGV
IAFRCPRSFMDQPLAEHFSPFRVQHMDLSNSVIEVSTLHGILSQCSKLQNLSLEGLRLSDPIVNTLAKNSNLVRLNLSGC
SGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYRKNLQKSDLSTLVRRCPNLVHLDLSDS
VMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLELGEIPTLKTLQVFGIVPDGTLQVLKEALPHLQINCSHFTTIARPT
IGNKKNQEIWGIKCRLTLQKPSCL*

Gene Symbol:SKP2
Accession:NM_001243120
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQPLAEHFSTLAKNSNLVRLNLSGCSGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYR
KNLQKSDLSTLVRRCPNLVHLDLSDSVMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLELGEIPTLKTLQVFGIVPDG
TLQVLKEALPHLQINCSHFTTIARPTIGNKKNQEIWGIKCRLTLQKPSCL*

Gene Symbol:SKP2
Accession:NM_032637
Location:INTRON

Gene Symbol:SKP2
Accession:XM_047417536
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004316126 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SKP2 CLINVAR
OMIM 601436 CLINVAR