rs150186509 Rat Genome Database

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Variant: rs150186509 -  Homo sapiens

RGD ID: 11636809
RS ID: rs150186509
ClinVar ID: CV269779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,904,285
GRCh38 17 35,577,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000286.3:c.452G>A
NG_008447.1:g.6372G>A
NC_000017.11:g.35577266C>T
NC_000017.10:g.33904285C>T
More...
02/16/2022 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided; PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A; PEX12-related condition; PEX12-related disorders
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX12
Accession:NM_000286
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSA
SFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSHWKRFYRAFL
AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATS
GYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000275125 CLINVAR
  RCV001080036 CLINVAR
  RCV002521937 CLINVAR
  RCV004547702 CLINVAR
dbSNP (RS) rs150186509 CLINVAR
MedGen C0950123 CLINVAR
  C3553929 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX12 CLINVAR
OMIM 601758 CLINVAR
  614859 CLINVAR