RGD:11640478 Rat Genome Database

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Variant: RGD:11640478 -  Homo sapiens

RGD ID: 11640478
RS ID: rs148607507
ClinVar ID: CV274813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 74,951,210
GRCh38 14 74,484,507
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007117.1:g.13875G>A
NC_000014.9:g.74484507C>T
NC_000014.8:g.74951210C>T
NP_006423.1:p.Asp91Asn
More... 		07/14/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_001363688
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPNGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSLSGGERAWVEG
RKWRRNQTETKSVP*

Gene Symbol:NPC2
Accession:NM_001375440
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPNGCKSGINCPIQKDKTYSYLNKLPVKSEYPSVSHL*

Gene Symbol:NPC2
Accession:NM_006432
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPNGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338408 CLINVAR
  RCV000763944 CLINVAR
  RCV002522031 CLINVAR
dbSNP (RS) rs148607507 CLINVAR
MedGen C0950123 CLINVAR
  C1843366 CLINVAR
  CN517202 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 601015 CLINVAR
  607625 CLINVAR