RGD:15166005 Rat Genome Database

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Variant: RGD:15166005 -  Homo sapiens

RGD ID: 15166005
RS ID: rs3176931
ClinVar ID: CV699532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGER  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 32,149,140
GRCh38 6 32,181,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001206929.2:c.1154G>A
NM_001206934.2:c.*30-124G>A
NM_001206966.2:c.*29+161G>A
NM_001206940.2:c.*30-124G>A
More... 		07/31/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AGER
Accession:XM_047418261
Location:3UTRS;EXON

Gene Symbol:AGER
Accession:XM_047418260
Location:3UTRS;EXON

Gene Symbol:AGER
Accession:NM_001206934
Location:3UTRS;INTRON

Gene Symbol:AGER
Accession:NM_001206966
Location:3UTRS;INTRON

Gene Symbol:AGER
Accession:NM_001206940
Location:3UTRS;INTRON

Gene Symbol:AGER
Accession:NM_172197
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLGGGPWDSVARVLPNGSLFLPAVGIQDE
GIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLDGKPLVPNEKGVSVK
EQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQLVVEPEGGAVAPGGT
VTLTCEVPAQPSPQIHWMKDVSDLERGAGRTRRGGANCRLCGRIRAGNSSPGPGDPGRPGDSRPAHWGHLVAKAATPRRG
EEGPRKPGGRGGACRTESVGGT*

Gene Symbol:AGER
Accession:NM_001206929
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 385
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVVEESRRSRKRPCEQEVGTC
VSEGSYPAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAP
IQPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSCVAT
HSSHGPQESRAVSISIIEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRQGEERKAPENQEEEEE
RAELNQSEEPEAGESSTGGP*

Gene Symbol:AGER
Accession:NM_001136
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLP
NGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLD
GKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSCVATHSSHGPQESRAVSISI
IEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRQGEERKAPENQEEEEERAELNQSEEPEAGESS
TGGP*

Gene Symbol:AGER
Accession:NM_001206932
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLGGGPWDSVARVLPNGSLFLPAVGIQDE
GIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLDGKPLVPNEKGVSVK
EQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQLVVEPEGGAVAPGGT
VTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYSCVATHSSHGPQESRAVSISIIEPGEEGPTAGSVG
GSGLGTLALALGILGGLGTAALLIGVILWQRRQRQGEERKAPENQEEEEERAELNQSEEPEAGESSTGGP*

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

Gene Symbol:AGER
Accession:NM_001206954
Location:INTRON

Gene Symbol:AGER
Accession:NM_001206936
Location:INTRON

Gene Symbol:AGER
Accession:XM_017010328
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948730 CLINVAR
dbSNP (RS) rs3176931 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AGER CLINVAR
OMIM 600214 CLINVAR