RGD:11642809 Rat Genome Database

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Variant: RGD:11642809 -  Homo sapiens

RGD ID: 11642809
RS ID: rs374489111
ClinVar ID: CV266785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 74,946,983
GRCh38 14 74,480,280
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.18102T>C
NC_000014.9:g.74480280A>G
NC_000014.8:g.74946983A>G
NP_006423.1:p.His150=
More... 		11/26/2020 3 prime utr variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_001363688
Location:3UTRS;EXON

Gene Symbol:NPC2
Accession:NM_001375440
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSVSHL*

Gene Symbol:NPC2
Accession:NM_006432
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000382282 CLINVAR
  RCV001085986 CLINVAR
  RCV002338827 CLINVAR
  RCV003909934 CLINVAR
dbSNP (RS) rs374489111 CLINVAR
MedGen C0950123 CLINVAR
  C1843366 CLINVAR
  C3661900 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 601015 CLINVAR
  607625 CLINVAR