RGD:38489182 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:38489182 -  Homo sapiens

RGD ID: 38489182
RS ID: rs2064127610
ClinVar ID: CV938902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP25  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 10,277,668
GRCh38 20 10,297,020
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322902.2:c.377A>G
NM_001322903.2:c.377A>G
NM_001322904.2:c.377A>G
NM_001322905.2:c.377A>G
More... 		09/20/2019 missense variant uncertain significance MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNAP25
Accession:XM_047440391
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRR*

Gene Symbol:SNAP25
Accession:NM_001424415
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_003081
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001424416
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322906
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322902
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322907
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_130811
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322905
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322903
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:XM_017028022
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322909
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322908
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322910
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322904
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDERERMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001210093 CLINVAR
dbSNP (RS) rs2064127610 CLINVAR
MedGen C4225364 CLINVAR
NCBI Gene SNAP25 CLINVAR
OMIM 600322 CLINVAR
  616330 CLINVAR