RGD:15185958 Rat Genome Database

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Variant: RGD:15185958 -  Homo sapiens

RGD ID: 15185958
RS ID: rs190608320
ClinVar ID: CV774530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNAB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 6,142,248
GRCh38 1 6,082,188
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003636.3:c.202-7G>A
NM_001199863.2:c.1-7G>A
NM_003636.4:c.202-7G>A
NM_172130.3:c.160-7G>A
More...
10/29/2018 intron variant likely benign none provided

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

Gene Symbol:KCNAB2
Accession:XM_005263514
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432870
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199862
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432866
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_172130
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199861
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_017002620
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432878
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199860
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542321
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432872
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_003636
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542322
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432867
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000931210 CLINVAR
dbSNP (RS) rs190608320 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNAB2 CLINVAR
OMIM 601142 CLINVAR