RGD:10766903 Rat Genome Database

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Variant: RGD:10766903 -  Homo sapiens

RGD ID: 10766903
RS ID: rs202119105
ClinVar ID: CV222561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEK8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 27,068,550
GRCh38 17 28,741,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NP_835464.1:p.Val671Met
NG_012263.1:g.17719G>A
NC_000017.11:g.28741532G>A
NC_000017.10:g.27068550G>A
More... 		09/13/2015 missense variant uncertain significance all ages 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEK8
Accession:NM_178170
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 671
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKALMIAM
EYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKA
YTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLS
LEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVYAWGGG
LGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGD
FFTACLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTR
ESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQ
EPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRGSRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKG
ARGRLGRRDEDAGLPRPVQLDETHPYTVTSMSCCHGNTLLAVRSVTDEPVPP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203849 CLINVAR
dbSNP (RS) rs202119105 CLINVAR
MedGen C3151188 CLINVAR
NCBI Gene NEK8 CLINVAR
OMIM 609799 CLINVAR
  613824 CLINVAR