RGD:150473624 Rat Genome Database

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Variant: RGD:150473624 -  Homo sapiens

RGD ID: 150473624
RS ID: rs74056957
ClinVar ID: CV1272201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,573,717
GRCh38 12 6,464,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199245.3:c.*325C>T
NM_001297438.2:c.340+339C>T
NM_016830.4:c.340+339C>T
NM_014231.5:c.341-65C>T
More... 		05/25/2021 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VAMP1
Accession:NM_199245
Location:3UTRS;EXON

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_014231
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_016830
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_001297438
Location:INTRON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001695739 CLINVAR
dbSNP (RS) rs74056957 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR