rs1553550932 Rat Genome Database

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Variant: rs1553550932 -  Homo sapiens

RGD ID: 13485322
RS ID: rs1553550932
ClinVar ID: CV450593
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIS3L2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 233,195,453
GRCh38 2 232,330,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152383.4:c.1977G>A
NC_000002.11:g.233195453G>A
LRG_534:g.374161G>A
NP_689596.4:p.Glu659=
More... 		01/29/2020 intron variant likely benign Nephroblastomatosis fetal ascites macrosomia and wilms tumor; Renal hamartomas nephroblastomatosis and fetal gigantism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DIS3L2
Accession:NM_152383
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 659
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHPDYRMNLRPLGTPRGVSAVAGPHDIGASPGDKKSKNRSTRGKKKSIFETYMSKEDVSEGLKRGTLIQGVLRINPKKF
HEAFIPSPDGDRDIFIDGVVARNRALNGDLVVVKLLPEEHWKVVKPESNDKETEAAYESDIPEELCGHHLPQQSLKSYND
SPDVIVEAQFDGSDSEDGHGITQNVLVDGVKKLSVCVSEKGREDGDAPVTKDETTCISQDTRALSEKSLQRSAKVVYILE
KKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTLFICRIVDWKEDCNFALGQLA
KSLGQAGEIEPETEGILTEYGVDFSDFSSEVLECLPQGLPWTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLA
DGNFKVGVHIADVSYFVPEGSDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEW
FGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEVHQAVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTL
DHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPEQALLRRHPPPQTRMLSDLVEFCDQMGLPVDFSSAGAL
NKSLTQTFGDDKYSLARKEVLTNMCSRPMQMALYFCSGLLQDPAQFRHYALNVPLYTHFTSPIRRFADVLVHRLLAAALG
YRERLDMAPDTLQKQADHCNDRRMASKRVQELSTSLFFAVLVKESGPLESEAMVMGILKQAFDVLVLRYGVQKRIYCNAL
ALRSHHFQKVGKKPELTLVWEPEDMEQEPAQQVITIFSLVEVVLQAESTALKYSAILKRPGTQGHLGPEKEEEESDGEPE
DSSTS*

Gene Symbol:DIS3L2
Accession:NR_046476
Location:EXON;NON-CODING

Gene Symbol:DIS3L2
Accession:NR_046477
Location:EXON;NON-CODING

Gene Symbol:DIS3L2
Accession:NM_001257282
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_001257281
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000530719 CLINVAR
dbSNP (RS) rs1553550932 CLINVAR
MedGen C0796113 CLINVAR
NCBI Gene DIS3L2 CLINVAR
OMIM 267000 CLINVAR
  614184 CLINVAR