RGD:40888861 Rat Genome Database

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Variant: RGD:40888861 -  Homo sapiens

RGD ID: 40888861
RS ID: rs2086687425
ClinVar ID: CV972199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,951,147
GRCh38 14 74,484,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006432.5:c.334A>T
NC_000014.8:g.74951147T>A
NP_001350617.1:p.Lys112Ter
NP_001362369.1:p.Lys112Ter
More...
07/24/2019 nonsense likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_006432
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLN*LPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL*

Gene Symbol:NPC2
Accession:NM_001363688
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLN*LPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSLSGGERAWVEG
RKWRRNQTETKSVP*

Gene Symbol:NPC2
Accession:NM_001375440
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLN*LPVKSEYPSVSHL*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001263848 CLINVAR
dbSNP (RS) rs2086687425 CLINVAR
MedGen C1843366 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 601015 CLINVAR
  607625 CLINVAR