RGD:15120179 Rat Genome Database

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Variant: RGD:15120179 -  Homo sapiens

RGD ID: 15120179
RS ID: rs777250519
ClinVar ID: CV761230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 154,543,704
GRCh38 1 154,571,228
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000748.3:c.405C>G
NG_008027.1:g.8448C>G
NC_000001.11:g.154571228C>G
NC_000001.10:g.154543704C>G
More... 		07/08/2018 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:XM_017000180
Location:5UTRS;INTRON

Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQLMVSLAQLISVHEREQIMTTN
VWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVK
HFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLN
VHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLA
GAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK*

Gene Symbol:CHRNB2
Accession:XR_001736952
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001436381 CLINVAR
dbSNP (RS) rs777250519 CLINVAR
MedGen C3696898 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR