RGD:13520258 Rat Genome Database

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Variant: RGD:13520258 -  Homo sapiens

RGD ID: 13520258
RS ID: rs375907790
ClinVar ID: CV490127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,249,962
GRCh38 1 160,280,172
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.9980C>T
NC_000001.11:g.160280172G>A
NC_000001.10:g.160249962G>A
NP_002848.1:p.Ser223=
More... 		12/02/2021 non-coding transcript variant|synonymous variant likely benign|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: S to S (synonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELA
SQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMVPVVNSV*

Gene Symbol:PEX19
Accession:NM_002857
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELA
SQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPPGASGEQCLIM*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000598495 CLINVAR
  RCV001860174 CLINVAR
dbSNP (RS) rs375907790 CLINVAR
MedGen C3554002 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX19 CLINVAR
OMIM 600279 CLINVAR
  614886 CLINVAR