RGD:151885843 Rat Genome Database

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Variant: RGD:151885843 -  Homo sapiens

RGD ID: 151885843
RS ID: rs1256770289
ClinVar ID: CV1418256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,575,422
GRCh38 12 6,466,256
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.98G>A
NM_014231.5:c.98G>A
NM_016830.4:c.98G>A
NM_199245.3:c.98G>A
More... 		12/11/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VAMP1
Accession:NM_014231
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRLLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVIYFFT*

Gene Symbol:VAMP1
Accession:NM_199245
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRLLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVSKYR*

Gene Symbol:VAMP1
Accession:NM_016830
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRLLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVRRD*

Gene Symbol:VAMP1
Accession:NM_001297438
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRLLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVRRG*

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

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

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_147127
Location:INTRON;NON-CODING

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001887437 CLINVAR
dbSNP (RS) rs1256770289 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR