RGD:15109395 Rat Genome Database

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Variant: RGD:15109395 -  Homo sapiens

RGD ID: 15109395
RS ID: rs201484306
ClinVar ID: CV694579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 61,990,981
GRCh38 20 63,359,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000735.1:p.Asn49=
NM_001256573.2:c.-400C>T
NG_011931.1:g.6715C>T
NC_000020.11:g.63359629G>A
More... 		06/03/2020 5 prime utr variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA4
Accession:NM_001256573
Location:5UTRS;EXON

Gene Symbol:CHRNA4
Accession:NM_000744
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISDVVLVRFGLSIAQLIDVDEKN
QMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWRPDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSS
CSIDVTFFPFDQQNCTMKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLS
IVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQS
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 RCV000871890 CLINVAR
dbSNP (RS) rs201484306 CLINVAR
MedGen C3696898 CLINVAR
NCBI Gene CHRNA4 CLINVAR
OMIM 118504 CLINVAR