RGD:11351024 Rat Genome Database

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Variant: RGD:11351024 -  Homo sapiens

RGD ID: 11351024
RS ID: rs878853079
ClinVar ID: CV237293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVPR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,171,352
GRCh38 X 153,905,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008687.1:g.5925T>C
NC_000023.11:g.153905898T>C
NC_000023.10:g.153171352T>C
NP_000045.1:p.Leu131Pro
More... 		03/20/2015 intron variant|missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:AVPR2
Accession:NM_000054
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMIPAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCT
NPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS*

Gene Symbol:AVPR2
Accession:NM_001146151
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMIPAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG*

Gene Symbol:AVPR2
Accession:NR_027419
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224807 CLINVAR
dbSNP (RS) rs878853079 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AVPR2 CLINVAR
OMIM 300538 CLINVAR