RGD:401718555 Rat Genome Database

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Variant: RGD:401718555 -  Homo sapiens

RGD ID: 401718555
ClinVar ID: CV2732722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127405273  RIOK1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 7,390,257
GRCh38 6 7,390,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_113668.2:p.Met8Val
NM_001348194.2:c.-323A>G
NG_107244.1:g.431A>G
NM_031480.2:c.22A>G
More... 		05/04/2023 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RIOK1
Accession:NM_001348194
Location:5UTRS;EXON

Gene Symbol:RIOK1
Accession:NM_031480
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRRLLVSRVVPGQFDDADSSDSENRDLKTVKEKDDILFEDLQDNVNENGEGEIEDEEEEGYDDDDDDWDWDEGVGKLA
KGYVWNGGSNPQANRQTSDSSSAKMSTPADKVLRKFENKINLDKLNVTDSVINKVTEKSRQKEADMYRIKDKADRATVEQ
VLDPRTRMILFKMLTRGIITEINGCISTGKEANVYHASTANGESRAIKIYKTSILVFKDRDKYVSGEFRFRHGYCKGNPR
KMVKTWAEKEMRNLIRLNTAEIPCPEPIMLRSHVLVMSFIGKDDMPAPLLKNVQLSESKARELYLQVIQYMRRMYQDARL
VHADLSEFNMLYHGGGVYIIDVSQSVEHDHPHALEFLRKDCANVNDFFMRHSVAVMTVRELFEFVTDPSITHENMDAYLS
KAMEIASQRTKEERSSQDHVDEEVFKRAYIPRTLNEVKNYERDMDIIMKLKEEDMAMNAQQDNILYQTVTGLKKDLSGVQ
KVPALLENQVEERTCSDSEDIGSSECSDTDSEEQGDHARPKKHTTDPDIDKKERKKMVKEAQREKRKNKIPKHVKKRKEK
TAKTKKGK*

Gene Symbol:RIOK1
Accession:XM_011514933
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003311055 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene RIOK1 CLINVAR
OMIM 617753 CLINVAR