RGD:11593231 Rat Genome Database

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Variant: RGD:11593231 -  Homo sapiens

RGD ID: 11593231
RS ID: rs75272959
ClinVar ID: CV300113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 41,126,472
GRCh38 6 41,158,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_631t1:c.*30G>A
LRG_631:g.9451G>A
NG_011561.1:g.9451G>A
NC_000006.12:g.41158734C>T
More... 		01/12/2018 3 prime utr variant benign|likely benign adolescent <1 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_018965
Location:3UTRS;EXON

Gene Symbol:TREM2
Accession:NM_001271821
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RAERHVKEDDGRKSPGKVPPGTSPACILATWPPGLLVLLWQETTLPEHCFSWTLEAGTG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000346653 CLINVAR
  RCV001572928 CLINVAR
  RCV003950268 CLINVAR
dbSNP (RS) rs75272959 CLINVAR
MedGen C3661900 CLINVAR
  C4748657 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 605086 CLINVAR
  618193 CLINVAR