RGD:12896117 Rat Genome Database

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Variant: RGD:12896117 -  Homo sapiens

RGD ID: 12896117
RS ID: rs74668961
ClinVar ID: CV389827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP7  LOC126860614  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 33,386,465
GRCh38 9 33,386,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027764.1:g.21053T>C
NC_000009.12:g.33386467A>G
NC_000009.11:g.33386465A>G
NM_001170.1:c.343T>C
More... 		03/28/2016 missense variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AQP7
Accession:NM_001318158
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTM
GVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFRYCPCPGPFL*

Gene Symbol:AQP7
Accession:NM_001376191
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTM
GVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFSNGENWWWVPVVAPLLGAYLGGIIYLVFIGSTIPREPLKLEDSVAYEDHGITVLPKMGSHEPTISPLTPVSVS
PANRSSVHPAPPLHESMALEHF*

Gene Symbol:AQP7
Accession:NM_001318156
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLNKKYGSYLGVNLGFGFGVTMGVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTA
ILHFSGGQLMVTGPVATAGIFATYLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSL
GMNTGYAINPSRDLPPRIFTFIAGWGKQVFRWHHLPGLHWLHHPTGAPEIGGFCGV*

Gene Symbol:AQP7
Accession:NM_001170
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTM
GVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFSNGENWWWVPVVAPLLGAYLGGIIYLVFIGSTIPREPLKLEDSVAYEDHGITVLPKMGSHEPTISPLTPVSVS
PANRSSVHPAPPLHESMALEHF*

Gene Symbol:AQP7
Accession:NM_001376192
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTM
GVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFRWHHLPGLHWLHHPTGAPEIGGFCGV*

Gene Symbol:AQP7
Accession:NM_001318157
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSGHCLRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTMG
VHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFATY
LPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIAG
WGKQVFRYCPCPGPFL*

Gene Symbol:AQP7
Accession:NM_001376193
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTM
GVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVHVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFRWHHLPGLHWLHHPTGAPEIGGFCGV*

Gene Symbol:AQP7
Accession:NR_134515
Location:EXON;NON-CODING

Gene Symbol:AQP7
Accession:NR_164778
Location:EXON;NON-CODING

Gene Symbol:AQP7
Accession:NR_164779
Location:EXON;NON-CODING

Gene Symbol:AQP7
Accession:NR_134513
Location:EXON;NON-CODING

Gene Symbol:AQP7
Accession:NR_134514
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454905 CLINVAR
dbSNP (RS) rs74668961 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AQP7 CLINVAR
  LOC126860614 CLINVAR
OMIM 602974 CLINVAR