RGD:15116805 Rat Genome Database

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Variant: RGD:15116805 -  Homo sapiens

RGD ID: 15116805
RS ID: rs1287389111
ClinVar ID: CV776721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XYLT2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 48,432,951
GRCh38 17 50,355,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012175.1:g.14559G>T
NC_000017.11:g.50355590G>T
NM_022167.4:c.1088+9G>T
NC_000017.10:g.48432951G>T
More... 		07/29/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XYLT2
Accession:NM_022167
Location:INTRON

Gene Symbol:XYLT2
Accession:XM_047436522
Location:INTRON

Gene Symbol:XYLT2
Accession:XM_005257572
Location:INTRON

Gene Symbol:XYLT2
Accession:NR_110010
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000939725 CLINVAR
dbSNP (RS) rs1287389111 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene XYLT2 CLINVAR
OMIM 608125 CLINVAR