RGD:12913053 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:12913053 -  Homo sapiens

RGD ID: 12913053
RS ID: rs1131691742
ClinVar ID: CV421699
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,446,652
GRCh38 9 127,684,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374315.2:c.1600A>G
NM_001374309.2:c.1660+1813A>G
NM_001374310.2:c.1660+1813A>G
NM_001374311.2:c.1660+1813A>G
More... 		08/09/2016 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:STXBP1
Accession:NM_001374315
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPS
EKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPH
KAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPS
SPVLHELTFQAMSYDLLPIENDVYKEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMK
HYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPED
SEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVS
ARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSAHILTPTKFLMDLRHPDFRESSRVSFE
DQAPTME*

Gene Symbol:STXBP1
Accession:NM_001374307
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 556
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDP
PTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAE
QIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSY
DLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKM
PQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFL
KNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKL
DTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSAHILT
PTKFLMDLRHPDFRESSRVSFEDQAPTME*

Gene Symbol:STXBP1
Accession:NM_003165
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 570
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPS
EKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPH
KAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPS
SPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGE
KTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVS
TYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTP
IIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQAN
GKWEVLIGSAHILTPTKFLMDLRHPDFRESSRVSFEDQAPTME*

Gene Symbol:STXBP1
Accession:NM_001374308
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 556
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDP
PTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAE
QIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSY
DLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKM
PQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFL
KNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKL
DTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSAHILT
PTKFLMDLRHPDFRESSRVSFEDQAPTME*

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493328 CLINVAR
dbSNP (RS) rs1131691742 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR