RGD:156061914 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: RGD:156061914 -  Homo sapiens

RGD ID: 156061914
ClinVar ID: CV2263171
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127819387  PLPP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 122,334,693
GRCh38 10 120,575,181
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318169.2:c.166-14122C>T
NM_001318168.2:c.216C>T
NM_001318167.2:c.307C>T
NM_001318166.2:c.371C>T
More... 		10/04/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLPP4
Accession:XM_011539444
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKERFRQLSYIKSNSHFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEIKE
AFLAVSLALALNGVCTNTIKLIVGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLA
GKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLR
VPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:NM_001318167
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEI
KEAFLVAFSGLGFTTFYLAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFVGGVIGLIFAYICYR
QHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:XM_047424709
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMKNASFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEIKEAFLAVSLALAL
NGVCTNTIKLIVGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAGKLYCFTESGR
GKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLRVPASLKKEERP
TADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:XM_047424710
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYK
HHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:XM_024447862
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYK
HHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:NM_001030059
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEI
KEAFLAVSLALALNGVCTNTIKLIVGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFY
LAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVS
LRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:XM_017015823
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFLPFRALASRRSTWRASCTASPRVGG
ERAGGSVLPSCPCTAP*

Gene Symbol:PLPP4
Accession:NM_001318168
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFLPFRALASRRSTWRASCTASPRVGG
ERAGGSVLPSCPCTAP*

Gene Symbol:PLPP4
Accession:NM_001318166
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEI
KEAFLAVSLALALNGVCTNTIKLIVGSCLFGPWLHDVLLGGQAVLLHREWAGKELAALCCHPALVLRHDDCPVPHVRLQA
SLARFLCGWSHRPHFCIHLLQTALSSSGQHSLP*

Gene Symbol:PLPP4
Accession:XM_017015821
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYK
HHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:XM_006717686
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQSDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEI
KEAFLAVSLALALNGVCTNTIKLIVGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFY
LAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQAVGRSQPSRRMAAPICS*

Gene Symbol:PLPP4
Accession:XM_017015822
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAGKLYCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYK
HHWQDSFVGGVIGLIFAYICYRQHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV*

Gene Symbol:PLPP4
Accession:NR_134516
Location:EXON;NON-CODING

Gene Symbol:PLPP4
Accession:XM_005269592
Location:INTRON

Gene Symbol:PLPP4
Accession:NM_001318169
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004131404 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLPP4 CLINVAR