rs281865095 Rat Genome Database

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Variant: rs281865095 -  Homo sapiens

RGD ID: 151871861
RS ID: rs281865095
ClinVar ID: CV1451478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CP  HPS3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 148,881,737
GRCh38 3 149,163,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_563t1:c.2589+1G>A
NM_001308258.2:c.2094+1G>A
NM_032383.5:c.2589+1G>A
LRG_563:g.39367G>A
More... 		06/26/2022 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CP
Accession:XM_006713499
Location:3UTRS;INTRON

Gene Symbol:CP
Accession:XM_011512435
Location:3UTRS;INTRON

Gene Symbol:CP
Accession:NM_000096
Location:INTRON

Gene Symbol:HPS3
Accession:XM_005247834
Location:INTRON

Gene Symbol:CP
Accession:XM_006713500
Location:INTRON

Gene Symbol:HPS3
Accession:NM_001308258
Location:INTRON

Gene Symbol:CP
Accession:XM_006713501
Location:INTRON

Gene Symbol:CP
Accession:XM_017005735
Location:INTRON

Gene Symbol:HPS3
Accession:NM_032383
Location:INTRON

Gene Symbol:CP
Accession:XM_017005734
Location:INTRON

Gene Symbol:HPS3
Accession:XM_047449064
Location:INTRON

Gene Symbol:CP
Accession:NR_046371
Location:INTRON;NON-CODING

Gene Symbol:HPS3
Accession:XR_001740328
Location:INTRON;NON-CODING

Gene Symbol:CP
Accession:XR_427361
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11590544   PMID:28492532   PMID:31898847  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001960539 CLINVAR
dbSNP (RS) rs281865095 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CP CLINVAR
  HPS3 CLINVAR
OMIM 117700 CLINVAR
  606118 CLINVAR