RGD:150489628 Rat Genome Database

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Variant: RGD:150489628 -  Homo sapiens

RGD ID: 150489628
RS ID: rs11544331
ClinVar ID: CV1238978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C7orf50  GPER1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 1,131,411
GRCh38 7 1,091,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001134396.1:c.129+35482G>A
NM_001318252.2:c.129+35482G>A
NM_001350968.1:c.129+35482G>A
NM_032350.5:c.129+35482G>A
More... 		04/28/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GPER1
Accession:NM_001098201
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVTSQARGVGLEMYQGTAQPAAPNTTSPELNLSHPLLGTALANGTGELSEHQQYVIGLFLSCLYTIFLFPIGFVGNILI
LVVNISFREKMTIPDLYFINLAVADLILVADSLIEVFNLHERYYDIAVLCTFMSLFLQVNMYSSVFFLTWMSFDRYIALA
RAMRCSLFRTKHHARLSCGLIWMASVSATLVPFTAVHLQHTDEACFCFADVREVQWLEVTLGFIVPFAIIGLCYSLIVRV
LVRAHRHRGLRPRRQKALRMILAVVLVFFVCWLPENVFISVHLLQRTQPGAAPCKQSFRHAHPLTGHIVNLAAFSNSCLN
PLIYSFLGETFRDKLRLYIEQKTNLPALNRFCHAALKAVIPDSTEQSDVRFSSAV*

Gene Symbol:GPER1
Accession:NM_001505
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVTSQARGVGLEMYQGTAQPAAPNTTSPELNLSHPLLGTALANGTGELSEHQQYVIGLFLSCLYTIFLFPIGFVGNILI
LVVNISFREKMTIPDLYFINLAVADLILVADSLIEVFNLHERYYDIAVLCTFMSLFLQVNMYSSVFFLTWMSFDRYIALA
RAMRCSLFRTKHHARLSCGLIWMASVSATLVPFTAVHLQHTDEACFCFADVREVQWLEVTLGFIVPFAIIGLCYSLIVRV
LVRAHRHRGLRPRRQKALRMILAVVLVFFVCWLPENVFISVHLLQRTQPGAAPCKQSFRHAHPLTGHIVNLAAFSNSCLN
PLIYSFLGETFRDKLRLYIEQKTNLPALNRFCHAALKAVIPDSTEQSDVRFSSAV*

Gene Symbol:GPER1
Accession:NM_001039966
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVTSQARGVGLEMYQGTAQPAAPNTTSPELNLSHPLLGTALANGTGELSEHQQYVIGLFLSCLYTIFLFPIGFVGNILI
LVVNISFREKMTIPDLYFINLAVADLILVADSLIEVFNLHERYYDIAVLCTFMSLFLQVNMYSSVFFLTWMSFDRYIALA
RAMRCSLFRTKHHARLSCGLIWMASVSATLVPFTAVHLQHTDEACFCFADVREVQWLEVTLGFIVPFAIIGLCYSLIVRV
LVRAHRHRGLRPRRQKALRMILAVVLVFFVCWLPENVFISVHLLQRTQPGAAPCKQSFRHAHPLTGHIVNLAAFSNSCLN
PLIYSFLGETFRDKLRLYIEQKTNLPALNRFCHAALKAVIPDSTEQSDVRFSSAV*

Gene Symbol:C7orf50
Accession:NM_001134395
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001350968
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_032350
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001134396
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001424326
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001424325
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001424327
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001350970
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001318252
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001350969
Location:INTRON

Gene Symbol:C7orf50
Accession:NM_001424329
Location:INTRON

Gene Symbol:C7orf50
Accession:NR_146967
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_156697
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_188525
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_134538
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_146965
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_146964
Location:INTRON;NON-CODING

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

Gene Symbol:C7orf50
Accession:NR_188533
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_188526
Location:INTRON;NON-CODING

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

Gene Symbol:C7orf50
Accession:NR_188522
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_134537
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_146966
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_188523
Location:INTRON;NON-CODING

Gene Symbol:C7orf50
Accession:NR_188524
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001654546 CLINVAR
dbSNP (RS) rs11544331 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C7orf50 CLINVAR
  GPER1 CLINVAR
OMIM 601805 CLINVAR