rs3750013 Rat Genome Database

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Variant: rs3750013 -  Homo sapiens

RGD ID: 150495241
RS ID: rs3750013
ClinVar ID: CV1282896
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 4,828,405
GRCh38 7 4,788,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1247t1:c.1596-66G>A
NM_001364858.1:c.1128-66G>A
NM_014855.3:c.1596-66G>A
LRG_1247:g.18144G>A
More... 		08/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:XM_047421098
Location:INTRON

Gene Symbol:AP5Z1
Accession:NM_014855
Location:INTRON

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001717337 CLINVAR
dbSNP (RS) rs3750013 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613653 CLINVAR