rs186689012 Rat Genome Database

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Variant: rs186689012 -  Homo sapiens

RGD ID: 11606068
RS ID: rs186689012
ClinVar ID: CV311451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 4,833,694
GRCh38 7 4,794,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028111.1:g.23433T>C
NC_000007.14:g.4794063T>C
NC_000007.13:g.4833694T>C
NM_014855.3:c.*2678T>C
More... 		01/12/2018 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:NM_001364858
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:XM_047421098
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 RCV000327255 CLINVAR
dbSNP (RS) rs186689012 CLINVAR
MedGen C3150901 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613647 CLINVAR
  613653 CLINVAR