RGD:156183026 Rat Genome Database

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Variant: RGD:156183026 -  Homo sapiens

RGD ID: 156183026
ClinVar ID: CV2255298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: S1PR5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 10,624,985
GRCh38 19 10,514,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001166215.2:c.703A>G
NM_030760.5:c.703A>G
NC_000019.10:g.10514309T>C
NC_000019.9:g.10624985T>C
More... 		05/15/2024 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:S1PR5
Accession:NM_001166215
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGLLRPAPVSEVIVLHYNYTGKLRGARYQPGAGLRADAVVCLAVCAFIVLENLAVLLVLGRHPRFHAPMFLLLGSLTL
SDLLAGAAYAANILLSGPLTLKLSPALWFAREGGVFVALTASVLSLLAIALERSLTMARRGPAPVSSRGRTLAMAAAAWG
VSLLLGLLPALGWNCLGRLDACSTVLPLYAKAYVLFCVLAFVGILAAICALYARIYCQVRANARRLPARPGTAGATSTRA
RRKPRSLALLRTLSVVLLAFVACWGPLFLLLLLDVACPARTCPVLLQADPFLGLAMANSLLNPIIYTLTNRDLRHALLRL
VCCGRHSCGRDPSGSQQSASAAEASGGLRRCLPPGLDGSFSGSERSSPQRDGLDTSGSTGSPGAPTAARTLVSEPAAD*

Gene Symbol:S1PR5
Accession:NM_030760
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGLLRPAPVSEVIVLHYNYTGKLRGARYQPGAGLRADAVVCLAVCAFIVLENLAVLLVLGRHPRFHAPMFLLLGSLTL
SDLLAGAAYAANILLSGPLTLKLSPALWFAREGGVFVALTASVLSLLAIALERSLTMARRGPAPVSSRGRTLAMAAAAWG
VSLLLGLLPALGWNCLGRLDACSTVLPLYAKAYVLFCVLAFVGILAAICALYARIYCQVRANARRLPARPGTAGATSTRA
RRKPRSLALLRTLSVVLLAFVACWGPLFLLLLLDVACPARTCPVLLQADPFLGLAMANSLLNPIIYTLTNRDLRHALLRL
VCCGRHSCGRDPSGSQQSASAAEASGGLRRCLPPGLDGSFSGSERSSPQRDGLDTSGSTGSPGAPTAARTLVSEPAAD*
.


Database
Acc Id
Source(s)
ClinVar RCV004117678 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene S1PR5 CLINVAR
OMIM 605146 CLINVAR