RGD:150500065 Rat Genome Database

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Variant: RGD:150500065 -  Homo sapiens

RGD ID: 150500065
RS ID: rs2072376
ClinVar ID: CV1224714
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 6,579,812
GRCh38 12 6,470,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297438.2:c.-115A>G
NM_014231.5:c.-115A>G
NM_016830.4:c.-115A>G
NM_199245.3:c.-115A>G
More... 		05/15/2021 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VAMP1
Accession:NM_199245
Location:5UTRS;EXON

Gene Symbol:VAMP1
Accession:NM_016830
Location:5UTRS;EXON

Gene Symbol:VAMP1
Accession:NM_001297438
Location:5UTRS;EXON

Gene Symbol:VAMP1
Accession:NM_014231
Location:5UTRS;EXON

Gene Symbol:TAPBPL
Accession:XR_001748777
Location:EXON;NON-CODING

Gene Symbol:TAPBPL
Accession:XR_001748778
Location:EXON;NON-CODING

Gene Symbol:VAMP1
Accession:NR_123717
Location:EXON;NON-CODING

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:TAPBPL
Accession:NR_147129
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147128
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147126
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147127
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001620546 CLINVAR
dbSNP (RS) rs2072376 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR