RGD:11638452 Rat Genome Database

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Variant: RGD:11638452 -  Homo sapiens

RGD ID: 11638452
RS ID: rs576066189
ClinVar ID: CV273221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 77,896,396
GRCh38 8 76,984,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008371.1:g.21129A>C
NC_000008.11:g.76984160T>G
NC_000008.10:g.77896396T>G
NM_000318.3:c.19A>C
More... 		09/01/2019 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX2
Accession:NM_000318
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKEHAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001172087
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKEHAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001172086
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKEHAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001079867
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKEHAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303985 CLINVAR
  RCV002519315 CLINVAR
  RCV003258733 CLINVAR
dbSNP (RS) rs576066189 CLINVAR
MedGen C0950123 CLINVAR
  C3553940 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  614866 CLINVAR