RGD:13835427 Rat Genome Database

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Variant: RGD:13835427 -  Homo sapiens

RGD ID: 13835427
RS ID: rs150987080
ClinVar ID: CV586685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 77,896,241
GRCh38 8 76,984,005
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000309.2:p.Ala58=
NP_001165557.2:p.Ala58=
NM_001172087.2:c.174G>A
NP_001073336.2:p.Ala58=
More... 		04/01/2022 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:PEX2
Accession:NM_001079867
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_000318
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001172087
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001172086
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000731227 CLINVAR
  RCV001492356 CLINVAR
dbSNP (RS) rs150987080 CLINVAR
MedGen C3553940 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  614866 CLINVAR