RGD:14738871 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14738871 -  Homo sapiens

RGD ID: 14738871
RS ID: rs2565066
ClinVar ID: CV662845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 27,328,267
GRCh38 8 27,470,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347707.2:c.-341+236G>A
NM_001347705.2:c.-355+236G>A
NM_001347708.2:c.-389+236G>A
NM_001347706.2:c.-400+236G>A
More...
06/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHRNA2
Accession:NM_001347706
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347705
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347708
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347707
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:XM_047421311
Location:INTRON

Gene Symbol:CHRNA2
Accession:NM_000742
Location:INTRON

Gene Symbol:CHRNA2
Accession:NM_001282455
Location:INTRON

Gene Symbol:CHRNA2
Accession:XM_047421313
Location:INTRON

Gene Symbol:CHRNA2
Accession:XM_047421312
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839607 CLINVAR
dbSNP (RS) rs2565066 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHRNA2 CLINVAR
OMIM 118502 CLINVAR