RGD:28885441 Rat Genome Database

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Variant: RGD:28885441 -  Homo sapiens

RGD ID: 28885441
RS ID: rs1697405
ClinVar ID: CV863526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALPL  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 21,904,206
GRCh38 1 21,577,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369804.2:c.*65C>G
NM_000478.6:c.*65C>G
NM_001127501.4:c.*65C>G
NM_001177520.3:c.*65C>G
More... 		01/12/2018 3 prime utr variant uncertain significance Phosphoethanol-aminuria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALPL
Accession:NM_001127501
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001177520
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001369803
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001369805
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_000478
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001369804
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:XM_017000903
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098134 CLINVAR
dbSNP (RS) rs1697405 CLINVAR
MedGen C0020630 CLINVAR
NCBI Gene ALPL CLINVAR
OMIM 171760 CLINVAR