RGD:15172267 Rat Genome Database

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Variant: RGD:15172267 -  Homo sapiens

RGD ID: 15172267
RS ID: rs41277710
ClinVar ID: CV703252
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERNA1  GNB5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 52,476,852
GRCh38 15 52,184,655
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016194.4:c.22G>A
NG_052868.1:g.11714G>A
NC_000015.10:g.52184655C>T
NC_000015.9:g.52476852C>T
More... 		12/15/2020 missense variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNB5
Accession:NM_016194
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDQTFLFNVFGSCDKCFKQRALRPVFKKSQQLSYCSTCAEIMATEGLHENETLASLKSEAESLKGKLEEERAKLHDVEL
HQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVSSSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGC
AIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADV
LCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYS
KESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRVSILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA*

Gene Symbol:GNB5
Accession:XM_011521162
Location:INTRON

Gene Symbol:GNB5
Accession:NM_001379343
Location:INTRON

Gene Symbol:GNB5
Accession:NM_006578
Location:INTRON

Gene Symbol:CERNA1
Accession:NR_102751
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000949990 CLINVAR
  RCV002548241 CLINVAR
  RCV003925920 CLINVAR
dbSNP (RS) rs41277710 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene CERNA1 CLINVAR
  GNB5 CLINVAR
OMIM 604447 CLINVAR