RGD:8660238 Rat Genome Database

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Variant: RGD:8660238 -  Homo sapiens

RGD ID: 8660238
RS ID: rs2073194
ClinVar ID: CV135253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065309  NOP56  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 2,633,936
GRCh38 20 2,653,290
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032136.1:g.5759T>C
NC_000020.11:g.2653290T>C
NC_000020.10:g.2633936T>C
NM_006392.2:c.105T>C
More... 		2kb upstream variant|500b downstream variant|non-coding transcript variant|synonymous variant benign|likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NOP56
Accession:NM_006392
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLL
ETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFN
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 Information

Database Acc Id Source(s)
ClinVar RCV000117823 CLINVAR
dbSNP (RS) rs2073194 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC130065309 CLINVAR
  NOP56 CLINVAR
OMIM 614154 CLINVAR