RGD:12836100 Rat Genome Database

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Variant: RGD:12836100 -  Homo sapiens

RGD ID: 12836100
RS ID: rs760032006
ClinVar ID: CV368317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 189,612,053
GRCh38 3 189,894,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.189894264T>C
NC_000003.11:g.189612053T>C
NP_003713.3:p.Leu602Pro
NM_003722.5:c.1805T>C
More...
11/08/2018 3 prime utr variant|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001114981
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329150
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329145
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329149
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001114978
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329144
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001114980
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 508
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGP
HSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFN
EGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQV
LGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEML
LKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTT
IPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIY
QIEHYSMDDLASLKIPEQFRHAIWKGIPDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPP
RDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001329964
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 600
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKCWEQRDWTAFTKVGKPCFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEPSE
DGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPS
PAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVK
RCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPIL
IIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLY
LPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLI
NPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCL
DYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGIPDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAV
RFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_003722
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 602
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDEL
LYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQ
LINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSS
CLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGIPDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVID
AVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001329146
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIA
PPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRC
FEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKE
SLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGM
GANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHY
SMDDLASLKIPEQFRHAIWKGIPDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWN
DFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001329148
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 598
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDAFRQNTHGIQMTSIKKRRSPDDELLYLP
VRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINP
QQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDY
FTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGIPDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRF
TLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114982
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000422824 CLINVAR
dbSNP (RS) rs760032006 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR