rs1695689170 Rat Genome Database

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Variant: rs1695689170 -  Homo sapiens

RGD ID: 126732385
RS ID: rs1695689170
ClinVar ID: CV988466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIS3L2  LOC127276018  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,194,704
GRCh38 2 232,329,994
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_689596.4:p.Asn641Tyr
NR_046476.2:n.1994A>T
LRG_534:g.373412A>T
NG_032572.1:g.373412A>T
More... 		01/08/2020 intron variant uncertain significance 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: N to Y (nonsynonymous)
Amino Acid Position: 641
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHPDYRMNLRPLGTPRGVSAVAGPHDIGASPGDKKSKNRSTRGKKKSIFETYMSKEDVSEGLKRGTLIQGVLRINPKKF
HEAFIPSPDGDRDIFIDGVVARNRALNGDLVVVKLLPEEHWKVVKPESNDKETEAAYESDIPEELCGHHLPQQSLKSYND
SPDVIVEAQFDGSDSEDGHGITQNVLVDGVKKLSVCVSEKGREDGDAPVTKDETTCISQDTRALSEKSLQRSAKVVYILE
KKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTLFICRIVDWKEDCNFALGQLA
KSLGQAGEIEPETEGILTEYGVDFSDFSSEVLECLPQGLPWTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLA
DGNFKVGVHIADVSYFVPEGSDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEW
FGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEVHQAVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTL
DHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPEQALLRRHPPPQTRMLSDLVEFCDQMGLPVDFSSAGAL
YKSLTQTFGDDKYSLARKEVLTNMCSRPMQMALYFCSGLLQDPAQFRHYALNVPLYTHFTSPIRRFADVLVHRLLAAALG
YRERLDMAPDTLQKQADHCNDRRMASKRVQELSTSLFFAVLVKESGPLESEAMVMGILKQAFDVLVLRYGVQKRIYCNAL
ALRSHHFQKVGKKPELTLVWEPEDMEQEPAQQVITIFSLVEVVLQAESTALKYSAILKRPGTQGHLGPEKEEEESDGEPE
DSSTS*

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

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

Gene Symbol:DIS3L2
Accession:NM_001257281
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_001257282
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001294552 CLINVAR
dbSNP (RS) rs1695689170 CLINVAR
MedGen C0796113 CLINVAR
NCBI Gene DIS3L2 CLINVAR
OMIM 267000 CLINVAR
  614184 CLINVAR