RGD:150556466 Rat Genome Database

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Variant: RGD:150556466 -  Homo sapiens

RGD ID: 150556466
RS ID: rs2148533812
ClinVar ID: CV1303151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,195,523
GRCh38 X 153,930,070
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256119.2:c.580A>G
NM_001256120.2:c.607A>G
NM_003491.4:c.625A>G
NG_031987.1:g.10085A>G
More... 		07/06/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDGKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDGKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKRISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEACREEKGLAAEDSGGDGKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001774344 CLINVAR
dbSNP (RS) rs2148533812 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR