RGD:243064144 Rat Genome Database

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Variant: RGD:243064144 -  Homo sapiens

RGD ID: 243064144
ClinVar ID: CV2411190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 41,129,189
GRCh38 6 41,161,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_631t1:c.203A>T
NM_001271821.2:c.203A>T
NM_018965.4:c.203A>T
LRG_631:g.6734A>T
More... 		02/01/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_018965
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHILWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RSLLEGEIPFPPTSILLLLACIFLIKILAASALWAAAWHGQKPGTHPPSELDCGHDPGYQLQTLPGLRDT*

Gene Symbol:TREM2
Accession:NM_001271821
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHILWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RAERHVKEDDGRKSPGEVPPGTSPACILATWPPGLLVLLWQETTLPEHCFSWTLEAGTG*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003142762 CLINVAR
MedGen C4748657 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 605086 CLINVAR
  618193 CLINVAR