rs539348967 Rat Genome Database

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Variant: rs539348967 -  Homo sapiens

RGD ID: 11608200
RS ID: rs539348967
ClinVar ID: CV311311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 4,833,259
GRCh38 7 4,793,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_157345.1:n.4798C>T
NG_028111.1:g.22998C>T
NC_000007.14:g.4793628C>T
NC_000007.13:g.4833259C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Spastic paraplegia 48, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:XM_047421098
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:NM_014855
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:NR_157345
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352359 CLINVAR
dbSNP (RS) rs539348967 CLINVAR
MedGen C3150901 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613647 CLINVAR
  613653 CLINVAR