RGD:21071952 Rat Genome Database

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Variant: RGD:21071952 -  Homo sapiens

RGD ID: 21071952
RS ID: rs1571023080
ClinVar ID: CV794429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 154,544,520
GRCh38 1 154,572,044
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.1221T>G
NG_008027.1:g.9264T>G
NC_000001.11:g.154572044T>G
NC_000001.10:g.154544520T>G
More...
05/01/2016 synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 407
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: P to P (synonymous)
Amino Acid Position: 237
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 Information

Database Acc Id Source(s)
ClinVar RCV000994109 CLINVAR
dbSNP (RS) rs1571023080 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR