RGD:15197675 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   new 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

Variant: RGD:15197675 -  Homo sapiens

RGD ID: 15197675
RS ID: rs199690911
ClinVar ID: CV725060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTHLH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 28,116,358
GRCh38 12 27,963,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.28116358G>C
NM_002820.3:c.447C>G
NM_198964.2:c.447C>G
NM_198965.2:c.447C>G
More... 		08/04/2017 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PTHLH
Accession:NM_002820
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSR*

Gene Symbol:PTHLH
Accession:NM_198966
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSRRH*

Gene Symbol:PTHLH
Accession:XM_017019675
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSRRH*

Gene Symbol:PTHLH
Accession:NM_198965
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSRRH*

Gene Symbol:PTHLH
Accession:NM_198964
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSR*

Gene Symbol:PTHLH
Accession:XM_047429179
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSRRH*

Gene Symbol:PTHLH
Accession:XM_047429178
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSP
NSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLESGVTGSGLEGD
HLSDTSTTSLELDSRRH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000890129 CLINVAR
dbSNP (RS) rs199690911 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTHLH CLINVAR
OMIM 168470 CLINVAR