RGD:151841945 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:151841945 -  Homo sapiens

RGD ID: 151841945
RS ID: rs994641022
ClinVar ID: CV1436011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNX10  SNX10-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 26,412,115
GRCh38 7 26,372,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199838.2:c.277T>C
NM_001199837.3:c.520T>C
NM_001199835.1:c.529T>C
NM_001318199.3:c.529T>C
More... 		08/30/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SNX10
Accession:XM_047420282
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILMEGIGCMRHSSLTRQPKLPYRSLASARGGLQEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRY
REFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACV
SGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001318198
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILMEGIGCMRHSSLTRQPKLPYRSLASARGGLQEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRY
REFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACV
SGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_013322
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKN
LFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEED
EEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001199835
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKN
LFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEED
EEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001199838
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEEDEEGK
KENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001362753
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILMEGIGCMRHSSLTRQPKLPYRSLASARGGLQEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRY
REFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACV
SGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001318199
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKN
LFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEED
EEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:XM_006715712
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKN
LFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEED
EEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001199837
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPLQEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKNLFF
NMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEEDEEG
KKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:NM_001362754
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILMEGIGCMRHSSLTRQPKLPYRSLASARGGLQEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRY
REFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACV
SGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQES*

Gene Symbol:SNX10
Accession:XM_047420283
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLF
LQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSPSGLGHSSDDSSSHGCKVNTAPQE
S*

Gene Symbol:SNX10-AS1
Accession:NR_136270
Location:EXON;NON-CODING

Gene Symbol:SNX10-AS1
Accession:NR_136272
Location:EXON;NON-CODING

Gene Symbol:SNX10-AS1
Accession:NR_136271
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001956864 CLINVAR
dbSNP (RS) rs994641022 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNX10 CLINVAR
  SNX10-AS1 CLINVAR
OMIM 614780 CLINVAR