RGD:8688529 Rat Genome Database

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Variant: RGD:8688529 -  Homo sapiens

RGD ID: 8688529
RS ID: rs367758008
ClinVar ID: CV139067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TET2  TET2-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 106,158,578
GRCh38 4 105,237,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127208.3:c.3409+70G>A
NM_017628.4:c.3479G>A
NG_028191.1:g.96547G>A
NC_000004.12:g.105237421G>A
More... 		04/22/2022 intron variant|missense variant likely benign|not provided AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TET2
Accession:NM_017628
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 1160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQDRTNHVEGNRLSPFLIPSPPICQTEPLATKLQNGSPLPERAHPEVNGDTKWHSFKSYYGIPCMKGSQNSRVSPDFTQ
ESRGYSKCLQNGGIKRTVSEPSLSGLLQIKKLKQDQKANGERRNFGVSQERNPGESSQPNVSDLSDKKESVSSVAQENAV
KDFTSFSTHNCSGPENPELQILNEQEGKSANYHDKNIVLLKNKAVLMPNGATVSASSVEHTHGELLEKTLSQYYPDCVSI
AVQKTTSHINAINSQATNELSCEITHPSHTSGQINSAQTSNSELPPKPAAVVSEACDADDADNASKLAAMLNTCSFQKPE
QLQQQKSVFEICPSPAENNIQGTTKLASGEEFCSGSSSNLQAPGGSSERYLKQNEMNGAYFKQSSVFTKDSFSATTTPPP
PSQLLLSPPPPLPQVPQLPSEGKSTLNGGVLEEHHHYPNQSNTTLLREVKIEGKPEAPPSQSPNPSTHVCSPSPMLSERP
QNNCVNRNDIQTAGTMTVPLCSEKTRPMSEHLKHNPPIFGSSGELQDNCQQLMRNKEQEILKGRDKEQTRDLVPPTQHYL
KPGWIELKAPRFHQAESHLKRNEASLPSILQYQPNLSNQMTSKQYTGNSNMPGGLPRQAYTQKTTQLEHKSQMYQVEMNQ
GQSQGTVDQHLQFQKPSHQVHFSKTDHLPKAHVQSLCGTRFHFQQRADSQTEKLMSPVLKQHLNQQASETEPFSNSHLLQ
HKPHKQAAQTQPSQSSHLPQNQQQQQKLQIKNKEEILQTFPHPQSNNDQQREGSFFGQTKVEECFHGENQYSKSSEFETH
NVQMGLEEVQNINRRNSPYSQTMKSSACKIQVSCSNNTHLVSENKEQTTHPELFAGNKTQNLHHMQYFPNNVIPKQDLLH
RCFQEQEQKSQQASVLQGYKNRNQDMSGQQAAQLAQQRYLIHNHANVFPVPDQGGSHTQTPPQKDTQKHAALRWHLLQKQ
EQQQTQQPQTESCHSQMHRPIKVEPGCKPHACMHTAPPENKTWKKVTKQENPPASCDNVQQKSIIETMEQHLKQFHAKSL
FDHKALTLKSQKQVKVEMSGPVTVLTRQTTAAELDSHTPALEQQTTSSEKTPTKRTAASVLNNFIESPSKLLDTPIKNLL
DTPVKTQYDFPSCRCVGKCQKCTETHGVYPELANLSSDMEFSFFF*

Gene Symbol:TET2
Accession:NM_001127208
Location:INTRON

Gene Symbol:TET2
Accession:XM_047415840
Location:INTRON

Gene Symbol:TET2
Accession:XM_047415843
Location:INTRON

Gene Symbol:TET2
Accession:XM_024454102
Location:INTRON

Gene Symbol:TET2
Accession:XM_047415841
Location:INTRON

Gene Symbol:TET2
Accession:XM_006714242
Location:INTRON

Gene Symbol:TET2
Accession:XM_017008319
Location:INTRON

Gene Symbol:TET2
Accession:XM_047415839
Location:INTRON

Gene Symbol:TET2
Accession:XM_005263082
Location:INTRON

Gene Symbol:TET2
Accession:XM_047415842
Location:INTRON

Gene Symbol:TET2
Accession:XM_024454103
Location:INTRON

Gene Symbol:TET2-AS1
Accession:NR_126420
Location:INTRON;NON-CODING

Gene Symbol:TET2
Accession:XR_007057933
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000122143 CLINVAR
  RCV003925214 CLINVAR
dbSNP (RS) rs367758008 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TET2 CLINVAR
  TET2-AS1 CLINVAR
OMIM 612839 CLINVAR