RGD:15186958 Rat Genome Database

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Variant: RGD:15186958 -  Homo sapiens

RGD ID: 15186958
RS ID: rs142695533
ClinVar ID: CV777298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTBN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 54,855,230
GRCh38 2 54,628,093
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178313.3:c.1606-4A>G
NM_003128.3:c.1645-4A>G
NG_029817.1:g.176777A>G
NC_000002.12:g.54628093A>G
More... 		07/13/2017 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPTBN1
Accession:XM_005264517
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_005264518
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_017004781
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_047445592
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_017004779
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_047445594
Location:INTRON

Gene Symbol:SPTBN1
Accession:NM_003128
Location:INTRON

Gene Symbol:SPTBN1
Accession:NM_178313
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_047445593
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_006712087
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_017004780
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_047445591
Location:INTRON

Gene Symbol:SPTBN1
Accession:XM_047445595
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000953441 CLINVAR
dbSNP (RS) rs142695533 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPTBN1 CLINVAR
OMIM 182790 CLINVAR