RGD:155960859 Rat Genome Database

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Variant: RGD:155960859 -  Homo sapiens

RGD ID: 155960859
ClinVar ID: CV2204380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 78,893,815
GRCh38 15 78,601,473
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.1169G>C
NM_001166694.2:c.1169G>C
NG_016143.1:g.24823G>C
NC_000015.10:g.78601473C>G
More...
10/26/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA3
Accession:NM_001166694
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQI
METNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCK
IDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV
ITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKACKEGYPCQDG
MCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEEQKAQEIQQLKRKEKST
ETSDQEPGL*

Gene Symbol:CHRNA3
Accession:NM_000743
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQI
METNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCK
IDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV
ITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKACKEGYPCQDG
MCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDDWKYVAMVIDRIFL
WVFTLVCILGTAGLFLQPLMAREDA*

Gene Symbol:CHRNA3
Accession:XM_006720382
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEV
TWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEI
YPDITYSLYIRRLPLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEY
LLFTMIFVTLSIVITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAE
SKACKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDD
WKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002686600 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CHRNA3 CLINVAR
OMIM 118503 CLINVAR