RGD:11652316 Rat Genome Database

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Variant: RGD:11652316 -  Homo sapiens

RGD ID: 11652316
RS ID: rs886056866
ClinVar ID: CV345821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX16  STX16-NPEPL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,253,846
GRCh38 20 58,678,790
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011831.2:g.32519C>T
NC_000020.11:g.58678790C>T
NC_000020.10:g.57253846C>T
NM_001001433.2:c.*2499C>T
More... 		06/14/2016 3 prime utr variant uncertain significance PHP IB; Pseudohypoparathyroidism Type IB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STX16
Accession:NM_001134772
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001204868
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001001433
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_003763
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001134773
Location:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304097 CLINVAR
dbSNP (RS) rs886056866 CLINVAR
MedGen C1864100 CLINVAR
NCBI Gene STX16 CLINVAR
  STX16-NPEPL1 CLINVAR
OMIM 603233 CLINVAR
  603666 CLINVAR