rs2142231624 Rat Genome Database

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Variant: rs2142231624 -  Homo sapiens

RGD ID: 151737769
RS ID: rs2142231624
ClinVar ID: CV1463893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127886567  PEX12  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 33,904,935
GRCh38 17 35,577,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.35577916C>G
NC_000017.10:g.33904935C>G
NP_000277.1:p.Ala36Pro
NM_000286.3:c.106G>C
More... 		12/02/2021 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 P (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPPLQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSA
SFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFL
AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATS
GYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001911613 CLINVAR
dbSNP (RS) rs2142231624 CLINVAR
MedGen C3553929 CLINVAR
NCBI Gene PEX12 CLINVAR
OMIM 601758 CLINVAR
  614859 CLINVAR