RGD:15181472 Rat Genome Database

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Variant: RGD:15181472 -  Homo sapiens

RGD ID: 15181472
RS ID: rs34624093
ClinVar ID: CV743190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGEA6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 151,935,535
GRCh38 X 152,767,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175868.4:c.632A>G
NP_005354.1:p.Lys211Arg
NM_005363.5:c.632A>G
NP_787064.1:p.Lys211Arg
More... 		06/11/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MAGEA6
Accession:NM_005363
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLEQRSQHCKPEEGLEARGEALGLVGAQAPATEEQEAASSSSTLVEVTLGEVPAAESPDPPQSPQGASSLPTTMNYPLW
SQSYEDSSNQEEEGPSTFPDLESEFQAALSRKVAKLVHFLLLKYRAREPVTKAEMLGSVVGNWQYFFPVIFSKASDSLQL
VFGIELMEVDPIGHVYIFATCLGLSYDGLLGDNQIMPKTGFLIIILAIIATEGDCAPEEKIWEELSVLEVFEGREDSIFG
DPKKLLTQYFVQENYLEYRQVPGSDPACYEFLWGPRALIETSYVKVLHHMVKISGGPRISYPLLHEWALREGEE*

Gene Symbol:MAGEA6
Accession:NM_175868
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLEQRSQHCKPEEGLEARGEALGLVGAQAPATEEQEAASSSSTLVEVTLGEVPAAESPDPPQSPQGASSLPTTMNYPLW
SQSYEDSSNQEEEGPSTFPDLESEFQAALSRKVAKLVHFLLLKYRAREPVTKAEMLGSVVGNWQYFFPVIFSKASDSLQL
VFGIELMEVDPIGHVYIFATCLGLSYDGLLGDNQIMPKTGFLIIILAIIATEGDCAPEEKIWEELSVLEVFEGREDSIFG
DPKKLLTQYFVQENYLEYRQVPGSDPACYEFLWGPRALIETSYVKVLHHMVKISGGPRISYPLLHEWALREGEE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000907589 CLINVAR
dbSNP (RS) rs34624093 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MAGEA6 CLINVAR
OMIM 300176 CLINVAR