RGD:12847671 Rat Genome Database

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Variant: RGD:12847671 -  Homo sapiens

RGD ID: 12847671
RS ID: rs147257964
ClinVar ID: CV377709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGTR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 115,304,255
GRCh38 X 116,173,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016326.1:g.7298C>T
NC_000023.11:g.116173002C>T
NC_000023.10:g.115304255C>T
NP_000677.2:p.Thr241Met
More... 		09/07/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AGTR2
Accession:NM_001385624
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSS
IYIFNLAVADLLLLATLPLWATYYSYRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQA
SYIVPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFPPEKYAQWSAGIALMKNILGFIIPLIFIATCYFGIRKHLLK
MNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLALPFAILLGFTNSCVNPFLYCF
VGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMETFVS*

Gene Symbol:AGTR2
Accession:NM_000686
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSS
IYIFNLAVADLLLLATLPLWATYYSYRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQA
SYIVPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFPPEKYAQWSAGIALMKNILGFIIPLIFIATCYFGIRKHLLK
MNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLALPFAILLGFTNSCVNPFLYCF
VGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMETFVS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000443904 CLINVAR
dbSNP (RS) rs147257964 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AGTR2 CLINVAR
OMIM 300034 CLINVAR