rs2151432344 Rat Genome Database

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Variant: rs2151432344 -  Homo sapiens

RGD ID: 151661798
RS ID: rs2151432344
ClinVar ID: CV1330029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PARK7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 8,030,954
GRCh38 1 7,970,894
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001123377.2:c.253T>C
NM_007262.5:c.253T>C
NG_008271.1:g.14241T>C
NC_000001.11:g.7970894T>C
More... 		missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PARK7
Accession:NM_001123377
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSEPAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*

Gene Symbol:PARK7
Accession:XM_005263424
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSEPAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*

Gene Symbol:PARK7
Accession:NM_007262
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSEPAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001823440 CLINVAR
dbSNP (RS) rs2151432344 CLINVAR
MedGen C1853445 CLINVAR
NCBI Gene PARK7 CLINVAR
OMIM 602533 CLINVAR
  606324 CLINVAR