rs746049604 Rat Genome Database

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Variant: rs746049604 -  Homo sapiens

RGD ID: 28894437
RS ID: rs746049604
ClinVar ID: CV878374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB1  LOC127885656  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 7,359,243
GRCh38 17 7,455,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000747.2:c.1348C>A
NP_000738.2:p.Gln450Lys
NM_000747.3:c.1348C>A
NG_008026.1:g.15838C>A
More... 		04/27/2017 missense variant uncertain significance Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB1
Accession:NM_000747
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLD
LEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPF
DWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLI
IRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVT
FSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFL
FPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEKEDHDALKEDWQFVAMVVDRLFLWTFIIFTS
VGTLVIFLDATYHLPPPDPFP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122102 CLINVAR
dbSNP (RS) rs746049604 CLINVAR
MedGen C1837091 CLINVAR
NCBI Gene CHRNB1 CLINVAR
OMIM 100710 CLINVAR
  608931 CLINVAR