RGD:15162684 Rat Genome Database

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Variant: RGD:15162684 -  Homo sapiens

RGD ID: 15162684
RS ID: rs138178120
ClinVar ID: CV721961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGER  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 32,150,086
GRCh38 6 32,182,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172197.3:c.809+230G>C
NM_001206954.2:c.822+259G>C
NM_001206936.2:c.850G>C
NM_001206932.2:c.860G>C
More... 		07/21/2018 intron variant benign|conflicting interpretations of pathogenicity none provided

Variant Details
Variant Transcripts
Gene Symbol:AGER
Accession:NM_001206966
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLD
GKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVATHSSHGPQESRAVSISI
IEPGEEGPTAGEGFDKVREAEDSPQHM*

Gene Symbol:AGER
Accession:NM_001206936
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLD
GKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGLRTREPTALWPPIPATGPRKAVLSASASSNQARRGQLQVRGLIKS
GKQKIAPNTCDWGDGQQERNGRPQKTRRKRRSVQN*

Gene Symbol:AGER
Accession:NM_001136
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLD
GKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVATHSSHGPQESRAVSISI
IEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRRGEERKAPENQEEEEERAELNQSEEPEAGESS
TGGP*

Gene Symbol:AGER
Accession:NM_001206932
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLGGGPWDSVARVLPNGSLFLPAVGIQDE
GIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLDGKPLVPNEKGVSVK
EQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQLVVEPEGGAVAPGGT
VTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVATHSSHGPQESRAVSISIIEPGEEGPTAGSVG
GSGLGTLALALGILGGLGTAALLIGVILWQRRQRRGEERKAPENQEEEEERAELNQSEEPEAGESSTGGP*

Gene Symbol:AGER
Accession:NM_001206934
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVVEESRRSRKRPCEQEVGTC
VSEGSYPAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAP
IQPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVAT
HSSHGPQESRAVSISIIEPGEEGPTAGEGFDKVREAEDSPQHM*

Gene Symbol:AGER
Accession:NM_001206929
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVVEESRRSRKRPCEQEVGTC
VSEGSYPAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAP
IQPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVAT
HSSHGPQESRAVSISIIEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRRGEERKAPENQEEEEE
RAELNQSEEPEAGESSTGGP*

Gene Symbol:AGER
Accession:NM_001206940
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLD
GKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSSVATHSSHGPQESRAVSISI
IEPGEEGPTAGEGFDKVREAEDSPQHM*

Gene Symbol:AGER
Accession:NR_038190
Location:EXON;NON-CODING

Gene Symbol:AGER
Accession:NM_001206954
Location:INTRON

Gene Symbol:AGER
Accession:NM_172197
Location:INTRON

Gene Symbol:AGER
Accession:XM_047418261
Location:INTRON

Gene Symbol:AGER
Accession:XM_017010328
Location:INTRON

Gene Symbol:AGER
Accession:XM_047418260
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000881805 CLINVAR
dbSNP (RS) rs138178120 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AGER CLINVAR
OMIM 600214 CLINVAR