RGD:8648502 Rat Genome Database

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Variant: RGD:8648502 -  Homo sapiens

RGD ID: 8648502
RS ID: rs62507273
ClinVar ID: CV108655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,238,214
GRCh38 12 102,844,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.102844436A>T
NC_000012.11:g.103238214A>T
NG_008690.2:g.118975T>A
NM_000277.1:c.970-5T>A
More... 		intron|intron variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Gene Symbol:PAH
Accession:NM_001354304
Location:INTRON

Gene Symbol:PAH
Accession:NM_000277
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000089185 CLINVAR
dbSNP (RS) rs62507273 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 612349 CLINVAR