rs1840248302 Rat Genome Database

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Variant: rs1840248302 -  Homo sapiens

RGD ID: 126915621
RS ID: rs1840248302
ClinVar ID: CV1046150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 33,135,181
GRCh38 9 33,135,183
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378495.1:c.609+6G>A
NM_001378496.1:c.648+6G>A
NM_001378497.1:c.648+6G>A
NM_001497.4:c.648+6G>A
More... 		04/05/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:B4GALT1
Accession:XM_047423231
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378496
Location:INTRON

Gene Symbol:B4GALT1
Accession:XM_047423232
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378495
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378497
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001497
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001360098 CLINVAR
dbSNP (RS) rs1840248302 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene B4GALT1 CLINVAR
OMIM 137060 CLINVAR