rs200551904 Rat Genome Database

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Variant: rs200551904 -  Homo sapiens

RGD ID: 21069919
RS ID: rs200551904
ClinVar ID: CV794168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,893,965
GRCh38 15 78,601,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000743.5:c.1019C>G
NM_001166694.2:c.1019C>G
NG_016143.1:g.24673C>G
NC_000015.10:g.78601623G>C
More... 		01/17/2020 non-coding transcript variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA3
Accession:NM_001166694
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQI
METNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCK
IDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV
ITVFVLNVHYRTPTTHTMP*WVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQDG
MCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEEQKAQEIQQLKRKEKST
ETSDQEPGL*

Gene Symbol:CHRNA3
Accession:NM_000743
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQI
METNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCK
IDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV
ITVFVLNVHYRTPTTHTMP*WVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQDG
MCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDDWKYVAMVIDRIFL
WVFTLVCILGTAGLFLQPLMAREDA*

Gene Symbol:CHRNA3
Accession:XM_006720382
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEV
TWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEI
YPDITYSLYIRRLPLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEY
LLFTMIFVTLSIVITVFVLNVHYRTPTTHTMP*WVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAE
SKGCKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDD
WKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA*

Gene Symbol:CHRNA3
Accession:NR_046313
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:31708116  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000993665 CLINVAR
dbSNP (RS) rs200551904 CLINVAR
MedGen C5231389 CLINVAR
NCBI Gene CHRNA3 CLINVAR
OMIM 118503 CLINVAR
  191800 CLINVAR
OMIM Allele 118503.0003 CLINVAR