RGD:401863529 Rat Genome Database

RGD:401863529 Rat Genome Database

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Variant: RGD:401863529 - Homo sapiens

RGD ID:

401863529

ClinVar ID:

CV2765879

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SKP2

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	36,152,941
GRCh38	5	36,152,839

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001243120.2:c.-319C>T NM_005983.4:c.77C>T NM_032637.4:c.77C>T NG_029643.3:g.5730C>T More...	08/02/2023	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SKP2
Accession:	NM_001243120
Location:	5UTRS;EXON

Gene Symbol:	SKP2
Accession:	NM_032637
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHRKHLQEIPDLSSNVATSFTWGWDFSKTSELLSGMGVSALEKEEPDSENIPQELLSNLGHPESPPRKRLKSKGSDKDFV IVRRPKLNRENFPGVSWDSLPDELLLGIFSCLCLPELLKVSGVCKRWYRLASDESLWQTLDLTGKNLHPDVTGRLLSQGV IAFRCPRSFMDQPLAEHFSPFRVQHMDLSNSVIEVSTLHGILSQCSKLQNLSLEGLRLSDPIVNTLAKNSNLVRLNLSGC SGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYRKNLQKSDLSTLVRRCPNLVHLDLSDS VMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLLVTRAGVRIRLDSDIGCPQTYRTSKLKSSHKLFCQHVRVICIFVCD FYFYRLVLKQ*

Gene Symbol:	SKP2
Accession:	NM_005983
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHRKHLQEIPDLSSNVATSFTWGWDFSKTSELLSGMGVSALEKEEPDSENIPQELLSNLGHPESPPRKRLKSKGSDKDFV IVRRPKLNRENFPGVSWDSLPDELLLGIFSCLCLPELLKVSGVCKRWYRLASDESLWQTLDLTGKNLHPDVTGRLLSQGV IAFRCPRSFMDQPLAEHFSPFRVQHMDLSNSVIEVSTLHGILSQCSKLQNLSLEGLRLSDPIVNTLAKNSNLVRLNLSGC SGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYRKNLQKSDLSTLVRRCPNLVHLDLSDS VMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLELGEIPTLKTLQVFGIVPDGTLQLLKEALPHLQINCSHFTTIARPT IGNKKNQEIWGIKCRLTLQKPSCL*

Gene Symbol:	SKP2
Accession:	XM_047417536
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHRKHLQEIPDLSSNVATSFTWGWDFSKTSELLSGMGVSALEKEEPDSENIPQELLSNLGHPESPPRKRLKSKGSDKDFV IVRRPKLNRENFPGVSWDSLPDELLLGIFSCLCLPELLKVSGVCKRWYRLASDESLWQTLDLTGKNLHPDVTGRLLSQGV IAFRCPRSFMDQPLAEHFSPFRVQHMDLSNSVIEVSTLHGILSQCSKLQNLSLEGLRLSDPIVNTLAKNSNLVRLNLSGC SGFSEFALQTLLSSCSRLDELNLSWCFDFTEKHVQVAVAHVSETITQLNLSGYRKNLQKSDLSTLVRRCPNLVHLDLSDS VMLKNDCFQEFFQLNYLQHLSLSRCYDIIPETLLGHECKCTRSIKNIKSKLSEEPTLTR*

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004337914	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SKP2	CLINVAR
OMIM	601436	CLINVAR