RGD:11607455 Rat Genome Database

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Variant: RGD:11607455 -  Homo sapiens

RGD ID: 11607455
ClinVar ID: CV311048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,454,677
GRCh38 9 127,692,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016623.1:g.85192C>T
NC_000009.12:g.127692398C>T
NC_000009.11:g.130454677C>T
NM_001032221.4:c.*1541C>T
More...
06/14/2016 3 prime utr variant likely benign

Variant Details
Variant Transcripts
Gene Symbol:STXBP1
Accession:NM_003165
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374307
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374315
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:3UTRS;EXON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Variant Samples