RGD:13837360 Rat Genome Database

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Variant: RGD:13837360 -  Homo sapiens

RGD ID: 13837360
RS ID: rs144256391
ClinVar ID: CV588649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX19  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 160,253,385
GRCh38 1 160,283,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008637.1:g.6557C>G
NC_000001.11:g.160283595G>C
NC_000001.10:g.160253385G>C
NP_002848.1:p.Pro39Ala
More... 		06/12/2018 missense variant uncertain significance none provided; Peroxisome biogenesis disorder 12A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX19
Accession:NM_001193644
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPASTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELA
SQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMVPVVNSV*

Gene Symbol:PEX19
Accession:NM_002857
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPASTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELA
SQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPPGASGEQCLIM*

Gene Symbol:PEX19
Accession:NR_036493
Location:EXON;NON-CODING

Gene Symbol:PEX19
Accession:NR_036492
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000733755 CLINVAR
  RCV001855787 CLINVAR
dbSNP (RS) rs144256391 CLINVAR
MedGen C3554002 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX19 CLINVAR
OMIM 600279 CLINVAR
  614886 CLINVAR