RGD:12849749 Rat Genome Database

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Variant: RGD:12849749 -  Homo sapiens

RGD ID: 12849749
RS ID: rs1057524408
ClinVar ID: CV379411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,510,590
GRCh38 X 71,290,740
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046742.1:g.12549C>T
NC_000023.11:g.71290740C>T
NC_000023.10:g.70510590C>T
NP_001138880.1:p.Gln35Ter
More... 		01/19/2017 intron variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:NONO
Accession:NM_001145410
Location:5UTRS;INTRON

Gene Symbol:NONO
Accession:NM_001145409
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQ*PPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_001145408
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQ*PPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_007363
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQ*PPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000435263 CLINVAR
dbSNP (RS) rs1057524408 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR