RGD:15108449 Rat Genome Database

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Variant: RGD:15108449 -  Homo sapiens

RGD ID: 15108449
RS ID: rs770625881
ClinVar ID: CV774547
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNAB2  LOC126805596  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 6,133,787
GRCh38 1 6,073,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199863.2:c.-38-6T>C
NM_172130.3:c.122-6T>C
NM_001199860.2:c.164-6T>C
NC_000001.11:g.6073727T>C
More...
07/18/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNAB2
Accession:NM_001199863
Location:5UTRS;INTRON

Gene Symbol:KCNAB2
Accession:XM_047432867
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_003636
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542321
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_017002620
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432866
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199860
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199862
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542322
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432872
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199861
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432870
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432878
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_005263514
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_172130
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000938157 CLINVAR
dbSNP (RS) rs770625881 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNAB2 CLINVAR
  LOC126805596 CLINVAR
OMIM 601142 CLINVAR