RGD:14711680 Rat Genome Database

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Variant: RGD:14711680 -  Homo sapiens

RGD ID: 14711680
RS ID: rs1601474256
ClinVar ID: CV648786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 61,981,624
GRCh38 20 63,350,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000744.6:c.1139G>A
NM_001256573.2:c.611G>A
NG_011931.1:g.16072G>A
NC_000020.11:g.63350272C>T
More... 		10/24/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA4
Accession:NM_001256573
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIRRLPLFYTINLIIPCLL
ISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPR
THTMPTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESMHKMANAPRFWPEPEGEPPATSGTQSLHPPSPSFCVPLDVPA
EPGPSCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEGGVRCRSRSIQYCVPRD
DAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSVSPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIAD
HLKAEDTDFSVKEDWKYVAMVIDRIFLWMFIIVCLLGTVGLFLPPWLAGMI*

Gene Symbol:CHRNA4
Accession:NM_000744
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISDVVLVRFGLSIAQLIDVDEKN
QMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWRPDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSS
CSIDVTFFPFDQQNCTMKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLS
IVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESMHKMANAPRFWPEPEGEPPATSGTQS
LHPPSPSFCVPLDVPAEPGPSCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEG
GVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSVSPSATVKTRSTKAPPPHLPL
SPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDRIFLWMFIIVCLLGTVGLFLPPWLAGMI*

Gene Symbol:CHRNA4
Accession:NR_046317
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818524 CLINVAR
dbSNP (RS) rs1601474256 CLINVAR
MedGen C3696898 CLINVAR
NCBI Gene CHRNA4 CLINVAR
OMIM 118504 CLINVAR