RGD:15152419 Rat Genome Database

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Variant: RGD:15152419 -  Homo sapiens

RGD ID: 15152419
RS ID: rs766450034
ClinVar ID: CV749559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP72  TPPP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 665,274
GRCh38 5 665,159
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_008961.1:p.Tyr201=
NM_007030.3:c.603T>C
NC_000005.10:g.665159A>G
NC_000005.9:g.665274A>G
More... 		06/04/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CEP72
Accession:XM_005248322
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_011514063
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_011514064
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_047417363
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_047417364
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_047417365
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_047417367
Location:3UTRS;EXON

Gene Symbol:CEP72
Accession:XM_047417368
Location:3UTRS;EXON

Gene Symbol:TPPP
Accession:NM_007030
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKAKPAKAANRTPPKSPGDPSKDRAAKRLSLESEGAGEGAAASPELSALEEAFRRFAVHGDARATGREMHGKNWSKLC
KDCQVIDGRNVTVTDVDIVFSKIKGKSCRTITFEQFQEALEELAKKRFKDKSSEEAVREVHRLIEGKAPIISGVTKAISS
PTVSRLTDTTKFTGSHKERFDPSGKGKGKAGRVDLVDESG*VSGYKHAGTYDQKVQGGK*

Gene Symbol:TPPP
Accession:XM_017008993
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSAIKLETVPSSTPDLALPPPGSCPQAALPPPGSCPHAAQPPPGSCPCILRWVGICIFGAFQGKGNMADKAKPAKAANR
TPPKSPGDPSKDRAAKRLSLESEGAGEGAAASPELSALEEAFRRFAVHGDARATGREMHGKNWSKLCKDCQVIDGRNVTV
TDVDIVFSKIKGKSCRTITFEQFQEALEELAKKRFKDKSSEEAVREVHRLIEGKAPIISGVTKAISSPTVSRLTDTTKFT
GSHKERFDPSGKGKGKAGRVDLVDESG*VSGYKHAGTYDQKVQGGK*

Gene Symbol:TPPP
Accession:XM_024454346
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKAKPAKAANRTPPKSPGDPSKDRAAKRLSLESEGAGEGAAASPELSALEEAFRRFAVHGDARATGREMHGKNWSKLC
KDCQVIDGRNVTVTDVDIVFSKIKGKSCRTITFEQFQEALEELAKKRFKDKSSEEAVREVHRLIEGKAPIISGVTKAISS
PTVSRLTDTTKFTGSHKERFDPSGKGKGKAGRVDLVDESG*VSGYKHAGTYDQKVQGGK*

Gene Symbol:TPPP
Accession:XM_047416674
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKAKPAKAANRTPPKSPGDPSKDRAAKRLSLESEGAGEGAAASPELSALEEAFRRFAVHGDARATGREMHGKNWSKLC
KDCQVIDGRNVTVTDVDIVFSKIKGKSCRTITFEQFQEALEELAKKRFKDKSSEEAVREVHRLIEGKAPIISGVTKAISS
PTVSRLTDTTKFTGSHKERFDPSGKGKGKAGRVDLVDESG*VSGYKHAGTYDQKVQGGK*

Gene Symbol:CEP72
Accession:NM_018140
Location:INTRON

Gene Symbol:CEP72
Accession:XM_047417366
Location:INTRON

Gene Symbol:CEP72
Accession:NR_164122
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923868 CLINVAR
dbSNP (RS) rs766450034 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CEP72 CLINVAR
  TPPP CLINVAR
OMIM 608773 CLINVAR
  616475 CLINVAR