RGD:13523592 Rat Genome Database

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Variant: RGD:13523592 -  Homo sapiens

RGD ID: 13523592
RS ID: rs149622783
ClinVar ID: CV489918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 41,127,605
GRCh38 6 41,159,867
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_631:g.8318G>A
NG_011561.1:g.8318G>A
NC_000006.12:g.41159867C>T
NC_000006.11:g.41127605C>T
More... 		05/01/2023 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_018965
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHQDAGDLWFPGESESFEDAHVEHSIS
RSLLEGEIPFPPTSILLLLACIFLIKILAASALWAAAWHGQKPGTHPPSELDCGHDPGYQLQTLPGLRDT*

Gene Symbol:TREM2
Accession:NM_001271821
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHQDAGDLWFPGESESFEDAHVEHSIS
RAERHVKEDDGRKSPGEVPPGTSPACILATWPPGLLVLLWQETTLPEHCFSWTLEAGTG*
Variant Samples
Additional References at PubMed
PMID:23150934   PMID:24899047   PMID:27589997   PMID:28492532   PMID:36112222   PMID:36133075  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000593199 CLINVAR
dbSNP (RS) rs149622783 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 605086 CLINVAR