RGD:28888182 Rat Genome Database

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Variant: RGD:28888182 -  Homo sapiens

RGD ID: 28888182
RS ID: rs150277350
ClinVar ID: CV895969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 41,126,713
GRCh38 6 41,158,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_631t1:c.574G>A
NM_001271821.2:c.483-195G>A
NC_000006.11:g.41126713C>T
NG_011561.1:g.9210G>A
More...
06/23/2017 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_018965
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RSLLEGEIPFPPTSILLLLACIFLIKILAASTLWAAAWHGQKPGTHPPSELDCGHDPGYQLQTLPGLRDT*

Gene Symbol:TREM2
Accession:NM_001271821
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27067662   PMID:28376694   PMID:28492532   PMID:31217084   PMID:32319261  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001151684 CLINVAR
  RCV002557271 CLINVAR
  RCV003405358 CLINVAR
dbSNP (RS) rs150277350 CLINVAR
MedGen C3661900 CLINVAR
  C4748657 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 605086 CLINVAR
  618193 CLINVAR