RGD:14742502 Rat Genome Database

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Variant: RGD:14742502 -  Homo sapiens

RGD ID: 14742502
RS ID: rs374602963
ClinVar ID: CV656652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 61,982,262
GRCh38 20 63,350,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256573.2:c.-28C>T
NG_011931.1:g.15434C>T
NC_000020.11:g.63350910G>A
NC_000020.10:g.61982262G>A
More... 		06/06/2018 5 prime utr variant likely benign none provided
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: F to F (synonymous)
Amino Acid Position: 167
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 RCV000841437 CLINVAR
  RCV001469338 CLINVAR
dbSNP (RS) rs374602963 CLINVAR
MedGen C3661900 CLINVAR
  C3696898 CLINVAR
NCBI Gene CHRNA4 CLINVAR
OMIM 118504 CLINVAR