RGD:12848037 Rat Genome Database

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Variant: RGD:12848037 -  Homo sapiens

RGD ID: 12848037
RS ID: rs373985042
ClinVar ID: CV364536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,548,279
GRCh38 1 154,575,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008027.1:g.13023C>T
NC_000001.11:g.154575803C>T
NC_000001.10:g.154548279C>T
NP_000739.1:p.Arg460=
More...
06/27/2016 synonymous variant likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQLMVSLAQLISVHEREQIMTTN
VWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVK
HFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLN
VHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLA
GAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK*

Gene Symbol:CHRNB2
Accession:XM_017000180
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTINLIIPCVLITS
LAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLNVHHRSPTTHT
MAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPV
AGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTT
FLHSDHSAPSSK*

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 RCV000444568 CLINVAR
  RCV001494444 CLINVAR
dbSNP (RS) rs373985042 CLINVAR
MedGen C3696898 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR