RGD:405185103 Rat Genome Database

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Variant: RGD:405185103 -  Homo sapiens

RGD ID: 405185103
ClinVar ID: CV3040346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127893949  STX16  STX16-NPEPL1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 57,227,208
GRCh38 20 58,652,152
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204868.2:c.-28+14C>A
NM_001001433.3:c.132+14C>A
NM_001134772.3:c.132+14C>A
NM_001134773.3:c.81+65C>A
More... 		01/16/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:STX16
Accession:NM_001204868
Location:5UTRS;INTRON

Gene Symbol:STX16
Accession:NM_001001433
Location:INTRON

Gene Symbol:STX16
Accession:NM_001134772
Location:INTRON

Gene Symbol:STX16
Accession:NM_001134773
Location:INTRON

Gene Symbol:STX16
Accession:NM_003763
Location:INTRON

Gene Symbol:STX16
Accession:NR_037941
Location:INTRON;NON-CODING

Gene Symbol:STX16
Accession:NR_037943
Location:INTRON;NON-CODING

Gene Symbol:STX16
Accession:NR_037942
Location:INTRON;NON-CODING

Gene Symbol:STX16-NPEPL1
Accession:NR_037945
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003705941 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene STX16 CLINVAR
  STX16-NPEPL1 CLINVAR
OMIM 603666 CLINVAR