RGD:9687514 Rat Genome Database

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Variant: RGD:9687514 -  Homo sapiens

RGD ID: 9687514
RS ID: rs724159974
ClinVar ID: CV172101
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX1B  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 31,004,696
GRCh38 16 30,993,375
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000016.10:g.30993375A>T
NC_000016.9:g.31004696A>T
NP_443106.1:p.Val216Glu
NG_041829.1:g.22134T>A
More... 		03/17/2015 missense variant pathogenic|not provided childhood GEFS+, TYPE 9
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STX1B
Accession:NM_052874
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTAD
IKKTANKVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTT
NEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFEDMAMLVESQGEMIDRIEYNVEHSV
DYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLGVVLASSIGGTLGL*

Gene Symbol:STX1B
Accession:XM_017022893
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPRAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTADIKKTAN
KVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTTNEELED
MLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFEDMAMLVESQGEMIDRIEYNVEHSVDYVERA
VSDTKKAVKYQSKARRKKIMIIICCVVLGVVLASSIGGTLGL*
Variant Samples
Additional References at PubMed
PMID:25362483  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149793 CLINVAR
dbSNP (RS) rs724159974 CLINVAR
MedGen C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR
OMIM Allele 601485.0004 CLINVAR