RGD:15106627 Rat Genome Database

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Variant: RGD:15106627 -  Homo sapiens

RGD ID: 15106627
RS ID: rs116084295
ClinVar ID: CV713262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIWIL4  PIWIL4-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 94,340,728
GRCh38 11 94,607,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152431.3:c.1762A>G
NC_000011.10:g.94607562A>G
NC_000011.9:g.94340728A>G
NM_152431.2:c.1762A>G
More... 		12/28/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PIWIL4
Accession:NM_152431
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 588
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGRARVKARGIARSPSATEVGRIQASPLPRSVDLSNNEASSSNGFLGTSRISTNDKYGISSGDAGSTFMERGVKNKQDF
MDLSICTREKLAHVRNCKTGSSGIPVKLVTNLFNLDFPQDWQLYQYHVTYIPDLASRRLRIALLYSHSELSNKAKAFDGA
ILFLSQKLEEKVTELSSETQRGETIKMTITLKRELPSSSPVCIQVFNIIFRKILKKLSMYQIGRNFYNPSEPMEIPQHKL
SLWPGFAISVSYFERKLLFSADVSYKVLRNETVLEFMTALCQRTGLSCFTQTCEKQLIGLIVLTRYNNRTYSIDDIDWSV
KPTHTFQKRDGTEITYVDYYKQQYDITVSDLNQPMLVSLLKKKRNDNSEAQLAHLIPELCFLTGLTDQATSDFQLMKAVA
EKTRLSPSGRQQRLARLVDNIQRNTNARFELETWGLHFGSQISLTGRIVPSEKILMQDHICQPVSAADWSKDIRTCKILN
AQSLNTWLILCSDRTEYVAESFLNCLRRVAGSMGFNVDYPKIIKVQENPAAFVRAIQQYVDPDVQLVMCILPSNQKTYYD
SIKKYLSSDCPVPSQCVLARTLNKQGMVMSIATKIAMQMTCKLGGELWAVEIPLKSLMVVGIDVCKDALSKDVMVVGCVA
SVNPRITRWFSRCILQRTMTDVADCLKVFMTGALNKWYKYNHDLPARIIVYRAGVGDGQLKTLIEYEVPQLLSSVAESSS
NTSSRLSVIVVRKKCMPRFFTEMNRTVQNPPLGTVVDSEATRNEWYDFYLISQVACRGTVSPTYYNVIYDDNGLKPDHMQ
RLTFKLCHLYYNWPGIVSVPAPCQYAHKLTFLVAQSIHKEPSLELANHLFYL*

Gene Symbol:PIWIL4-AS1
Accession:NR_135096
Location:INTRON;NON-CODING

Gene Symbol:PIWIL4-AS1
Accession:NR_135094
Location:INTRON;NON-CODING

Gene Symbol:PIWIL4-AS1
Accession:NR_135093
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960118 CLINVAR
dbSNP (RS) rs116084295 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 105369438 CLINVAR
  PIWIL4 CLINVAR
OMIM 610315 CLINVAR