rs115354748 Rat Genome Database

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Variant: rs115354748 -  Homo sapiens

RGD ID: 11604709
RS ID: rs115354748
ClinVar ID: CV321461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS1  ZDHHC24  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,300,723
GRCh38 11 66,533,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009093.1:g.27605T>C
NC_000011.10:g.66533252T>C
NC_000011.9:g.66300723T>C
NM_024649.5:c.*1215T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign antenatal 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS1
Accession:NM_024649
Location:3UTRS;EXON

Gene Symbol:ZDHHC24
Accession:XM_005273874
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544894
Location:INTRON

Gene Symbol:ZDHHC24
Accession:NM_001348571
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544893
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_047426710
Location:INTRON

Gene Symbol:ZDHHC24
Accession:NM_207340
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_047426709
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XR_007062471
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_007062470
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_949860
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000311875 CLINVAR
dbSNP (RS) rs115354748 CLINVAR
MedGen C2936862 CLINVAR
NCBI Gene BBS1 CLINVAR
  ZDHHC24 CLINVAR
OMIM 209900 CLINVAR
  209901 CLINVAR