RGD:12845158 Rat Genome Database

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Variant: RGD:12845158 -  Homo sapiens

RGD ID: 12845158
RS ID: rs113116986
ClinVar ID: CV364530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,544,427
GRCh38 1 154,571,951
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.9171C>T
NC_000001.11:g.154571951C>T
NC_000001.10:g.154544427C>T
NP_000739.1:p.Leu376=
More... 		01/22/2019 synonymous variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:XM_017000180
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTINLIIPCVLITS
LAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLNVHHRSPTTHT
MAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPV
AGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTT
FLHSDHSAPSSK*

Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 376
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 RCV000439302 CLINVAR
  RCV000654356 CLINVAR
  RCV002323587 CLINVAR
  RCV003884521 CLINVAR
dbSNP (RS) rs113116986 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C3696898 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR