RGD:15157376 Rat Genome Database

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Variant: RGD:15157376 -  Homo sapiens

RGD ID: 15157376
RS ID: rs148812911
ClinVar ID: CV758519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTSJ1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,336,905
GRCh38 X 48,478,517
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282157.1:c.-76-521G>A
NM_012280.4:c.190G>A
NM_177439.3:c.190G>A
NG_008879.1:g.7357G>A
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FTSJ1
Accession:NM_001282157
Location:5UTRS;INTRON

Gene Symbol:FTSJ1
Accession:XM_047441943
Location:EXON

Gene Symbol:FTSJ1
Accession:NM_012280
Location:EXON

Gene Symbol:FTSJ1
Accession:XM_047441944
Location:EXON

Gene Symbol:FTSJ1
Accession:NM_177439
Location:EXON

Gene Symbol:FTSJ1
Accession:XM_047441942
Location:EXON

Gene Symbol:FTSJ1
Accession:XM_005272595
Location:EXON

Gene Symbol:FTSJ1
Accession:XM_024452359
Location:EXON

Gene Symbol:FTSJ1
Accession:XM_047441945
Location:EXON

Gene Symbol:FTSJ1
Accession:XR_949016
Location:EXON;NON-CODING

Gene Symbol:FTSJ1
Accession:XR_949015
Location:EXON;NON-CODING

Gene Symbol:FTSJ1
Accession:XR_007068186
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924849 CLINVAR
dbSNP (RS) rs148812911 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FTSJ1 CLINVAR
OMIM 300499 CLINVAR