RGD:11613164 Rat Genome Database

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Variant: RGD:11613164 -  Homo sapiens

RGD ID: 11613164
RS ID: rs6122440
ClinVar ID: CV336279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 62,037,749
GRCh38 20 63,406,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009004.2:g.71245C>T
NC_000020.11:g.63406396G>A
NC_000020.10:g.62037749G>A
NM_004518.6:c.*248C>T
More... 		06/14/2018 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:NM_172106
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001666887 CLINVAR
dbSNP (RS) rs6122440 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR