RGD:21075231 Rat Genome Database

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Variant: RGD:21075231 -  Homo sapiens

RGD ID: 21075231
RS ID: rs1557185465
ClinVar ID: CV798225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898528  RPL10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,628,204
GRCh38 X 154,399,863
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256580.2:c.143G>A
NM_001256577.2:c.251G>A
NM_001303624.2:c.251G>A
NM_001303625.1:c.251G>A
More... 		02/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RPL10
Accession:NM_001256577
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDDFHIRVRLHPFHVIRINKMLSCAGADRSTSQRSGASPSSMLMNLKTWWLKSGSSQMAVGSSTSPVVALWTSGGPCTH
EGFQCAAPLLILTNKFYFLSTYVFVSTFLTGKELPLGTFGSLPFHFRNRLTTQPCS*

Gene Symbol:RPL10
Accession:NM_001256580
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPALEAARICANKYMVKSCGKDDFHIRVRLHPFHVIRINKMLSCAGADRLQTGMR
GAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFPGRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCG
VKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001303624
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDDFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001303626
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDDFHIRVRLHPFHVIRINKMLSCAGADRHARCLWKAPGHCGQGSHWPSYHVHPHQAAEQGACD*

Gene Symbol:RPL10
Accession:NM_001303625
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDDFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_006013
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSC
GKDDFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000996071 CLINVAR
dbSNP (RS) rs1557185465 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RPL10 CLINVAR
OMIM 312173 CLINVAR