rs2072781374 Rat Genome Database

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Variant: rs2072781374 -  Homo sapiens

RGD ID: 151890614
RS ID: rs2072781374
ClinVar ID: CV1350594
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,902,869
GRCh38 17 35,575,850
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.1012G>A
NG_008447.1:g.7788G>A
NC_000017.11:g.35575850C>T
NC_000017.10:g.33902869C>T
More... 		08/27/2021 missense variant uncertain significance PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX12
Accession:NM_000286
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSA
SFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFL
AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATS
GYVFCYRCVFHYVRSHQTCPITGYPTEVQHLIKLYSPEN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002038861 CLINVAR
dbSNP (RS) rs2072781374 CLINVAR
MedGen C3553929 CLINVAR
NCBI Gene PEX12 CLINVAR
OMIM 601758 CLINVAR
  614859 CLINVAR