RGD:14709655 Rat Genome Database

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Variant: RGD:14709655 -  Homo sapiens

RGD ID: 14709655
RS ID: rs1463703956
ClinVar ID: CV644612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127883710  STX1B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 31,012,457
GRCh38 16 31,001,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052874.5:c.163A>C
NG_041829.1:g.14373A>C
NC_000016.10:g.31001136T>G
NC_000016.9:g.31012457T>G
More... 		10/08/2018 missense variant uncertain significance 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: K to Q (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKQQHSAILAAPNPDEKTKQELEDLTAD
IKKTANKVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTT
NEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDMAMLVESQGEMIDRIEYNVEHSV
DYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLGVVLASSIGGTLGL*

Gene Symbol:STX1B
Accession:XM_017022893
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPRAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKQQHSAILAAPNPDEKTKQELEDLTADIKKTAN
KVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTTNEELED
MLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDMAMLVESQGEMIDRIEYNVEHSVDYVERA
VSDTKKAVKYQSKARRKKIMIIICCVVLGVVLASSIGGTLGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792923 CLINVAR
dbSNP (RS) rs1463703956 CLINVAR
MedGen C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR