RGD:13802575 Rat Genome Database

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Variant: RGD:13802575 -  Homo sapiens

RGD ID: 13802575
RS ID: rs901075787
ClinVar ID: CV577283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,574,097
GRCh38 12 6,464,931
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014231.3:c.299T>C
NP_055046.1:p.Met100Thr
NM_199245.3:c.299T>C
NC_000012.12:g.6464931A>G
More... 		03/28/2018 missense variant uncertain significance none provided
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_016830
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIRLGAICAIIVVVIVRRD*

Gene Symbol:VAMP1
Accession:NM_001297438
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIRLGAICAIIVVVIVRRG*

Gene Symbol:VAMP1
Accession:NM_014231
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIRLGAICAIIVVVIVIYFFT*

Gene Symbol:VAMP1
Accession:NM_199245
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIRLGAICAIIVVVIVSKYR*

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_147126
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:NR_147129
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 References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000714169 CLINVAR
  RCV002532963 CLINVAR
dbSNP (RS) rs901075787 CLINVAR
MedGen C0037772 CLINVAR
  C3661900 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR