RGD:13612121 Rat Genome Database

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Variant: RGD:13612121 -  Homo sapiens

RGD ID: 13612121
RS ID: rs1360494485
ClinVar ID: CV514104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOP56  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 2,635,476
GRCh38 20 2,654,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006392.4:c.452G>C
NM_006392.3:c.452G>C
NC_000020.10:g.2635476G>C
NP_006383.2:p.Ser151Thr
More... 		01/01/2017 missense variant uncertain significance Mild global developmental delay
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ataxia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:NOP56
Accession:NM_006392
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLL
ETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHTYSRAKVKFN
VNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAK
AKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAK
YPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQ
VEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEMSEKPK
KKKKQKPQEVPQENGMEDPSISFSKPKKKKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKR
KFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED*

Gene Symbol:NOP56
Accession:NR_145428
Location:EXON;NON-CODING

Gene Symbol:NOP56
Accession:NR_027700
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000626898 CLINVAR
dbSNP (RS) rs1360494485 CLINVAR
MedGen C0007758 CLINVAR
NCBI Gene NOP56 CLINVAR
OMIM 614154 CLINVAR
SNOMED CT 85102008 CLINVAR