RGD:151865167 Rat Genome Database

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Variant: RGD:151865167 -  Homo sapiens

RGD ID: 151865167
RS ID: rs567563488
ClinVar ID: CV1405979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 69,218,149
GRCh38 12 68,824,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145340.3:c.156+10741C>T
NM_001278462.2:c.156+10741C>T
NM_001145337.3:c.347C>T
NM_001367990.1:c.347C>T
More... 		12/06/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MDM2
Accession:NM_001367990
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCNTNMSVPTDGAVTTSQIPASEQETLVRPKPLLLKLLKSVGAQKDTYTMKEVLFYLGQYIMTKRLYDEKQQHIVYCSND
LLGDLFGVPSFSVKEHRKIYTMIYRNLVVVNQQESLDSGTSVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVSRPSTSS
RRRAISETEENSDELSGERQRKRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVSEHSGDWLDQDS
VSDQFSVEFEVESLDSEDYSLSEEGQELSDEDDEVYQVTVYQAGESDTDSFEEDPEISLADYWKCTSCNEMNPPLPSHCN
RCWALRENWLPEDKGKDKGEISEKAKLENSTQAEEGFDVPDCKKTIVNDSRESCVEENDDKITQASQSQESEDYSQPSTS
SSIIYSSQEDVKEFEREETQDKEESVESSLPLNAIEPCVICQGRPKNGCIVHGKTGHLMACFTCAKKLKKRNKPCPVCRQ
PIQMIVLTYFP*

Gene Symbol:MDM2
Accession:XM_047428853
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIYRNLVVVNQQESLDSGTSVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVSRPSTSSRRRAISETEENSDELSGERQR
KRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVSEHSGDWLDQDSVSDQFSVEFEVESLDSEDYSL
SEEGQELSDEDDEVYQVTVYQAGESDTDSFEEDPEISLADYWKCTSCNEMNPPLPSHCNRCWALRENWLPEDKGKDKGEI
SEKAKLENSTQAEEGFDVPDCKKTIVNDSRESCVEENDDKITQASQSQESEDYSQPSTSSSIIYSSQEDVKEFEREETQD
KEESVESSLPLNAIEPCVICQGRPKNGCIVHGKTGHLMACFTCAKKLKKRNKPCPVCRQPIQMIVLTYFP*

Gene Symbol:MDM2
Accession:NM_002392
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRSRQMCNTNMSVPTDGAVTTSQIPASEQETLVRPKPLLLKLLKSVGAQKDTYTMKEVLFYLGQYIMTKRLYDEKQQHI
VYCSNDLLGDLFGVPSFSVKEHRKIYTMIYRNLVVVNQQESLDSGTSVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVS
RPSTSSRRRAISETEENSDELSGERQRKRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVSEHSGD
WLDQDSVSDQFSVEFEVESLDSEDYSLSEEGQELSDEDDEVYQVTVYQAGESDTDSFEEDPEISLADYWKCTSCNEMNPP
LPSHCNRCWALRENWLPEDKGKDKGEISEKAKLENSTQAEEGFDVPDCKKTIVNDSRESCVEENDDKITQASQSQESEDY
SQPSTSSSIIYSSQEDVKEFEREETQDKEESVESSLPLNAIEPCVICQGRPKNGCIVHGKTGHLMACFTCAKKLKKRNKP
CPVCRQPIQMIVLTYFP*

Gene Symbol:MDM2
Accession:NM_001145337
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCNTNMSVPTDGAVTTSQIPASEQETLVRPKPLLLKLLKSVGAQKDTYTMKEVLFYLGQYIMTKRLYDEKQQHIVYCSND
LLGDLFGVPSFSVKEHRKIYTMIYRNLVVVNQQESLDSGTSVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVSRPSTSS
RRRAISETEENSDELSGERQRKRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVYQVTVYQAGESD
TDSFEEDPEISLADYWKCTSCNEMNPPLPSHCNRCWALRENWLPEDKGKDKGEISEKAKLENSTQAEEGFDVPDCKKTIV
NDSRESCVEENDDKITQASQSQESEDYSQPSTSSSIIYSSQEDVKEFEREETQDKEESVESSLPLNAIEPCVICQGRPKN
GCIVHGKTGHLMACFTCAKKLKKRNKPCPVCRQPIQMIVLTYFP*

Gene Symbol:MDM2
Accession:NM_001278462
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145340
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145339
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001959738 CLINVAR
dbSNP (RS) rs567563488 CLINVAR
MedGen C3280690 CLINVAR
NCBI Gene MDM2 CLINVAR
OMIM 164785 CLINVAR
  614401 CLINVAR