RGD:14707162 Rat Genome Database

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Variant: RGD:14707162 -  Homo sapiens

RGD ID: 14707162
RS ID: rs12116820
ClinVar ID: CV657919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  TSPAN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 46,655,873
GRCh38 1 46,190,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017739.3:c.1650-212G>A
LRG_701t2:c.1650-212G>A
NM_001290130.2:c.1221-212G>A
NM_001290129.2:c.1584-212G>A
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPAN1
Accession:NM_005727
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_011540460
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420982
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420887
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420946
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047421003
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420922
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000826752 CLINVAR
dbSNP (RS) rs12116820 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613170 CLINVAR