RGD:13211966 Rat Genome Database

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Variant: RGD:13211966 -  Homo sapiens

RGD ID: 13211966
RS ID: rs1557184925
ClinVar ID: CV426436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124905228  RPL10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,626,868
GRCh38 X 154,398,527
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012890.2:g.5299G>A
NC_000023.11:g.154398527G>A
NC_000023.10:g.153626868G>A
NM_006013.3:c.8G>A
More... 		11/15/2015 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:RPL10
Accession:NM_001303624
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_006013
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001303626
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRHARCLWKAPGHCGQGSHWPSYHVHPHQAAEQGACD*

Gene Symbol:RPL10
Accession:NM_001256577
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRSTSQRSGASPSSMLMNLKTWWLKSGSSQMAVGSSTSPVVALWTSGGPCTH
EGFQCAAPLLILTNKFYFLSTYVFVSTFLTGKELPLGTFGSLPFHFRNRLTTQPCS*

Gene Symbol:RPL10
Accession:NM_001303625
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001256580
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHRPARCYRYCKNKPYPKSRFCRGVPALEAARICANKYMVKSCGKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMR
GAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFPGRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCG
VKYIPSRGPLDKWRALHS*

Gene Symbol:LOC124905228
Accession:XR_007068356
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000498157 CLINVAR
dbSNP (RS) rs1557184925 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RPL10 CLINVAR
OMIM 312173 CLINVAR