RGD:405702200 Rat Genome Database

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Variant: RGD:405702200 -  Homo sapiens

RGD ID: 405702200
ClinVar ID: CV3310202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: S1PR5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,624,508
GRCh38 19 10,513,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001166215.2:c.1180G>A
NM_030760.5:c.1180G>A
NC_000019.10:g.10513832C>T
NC_000019.9:g.10624508C>T
More... 		08/02/2021 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:S1PR5
Accession:NM_030760
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGLLRPAPVSEVIVLHYNYTGKLRGARYQPGAGLRADAVVCLAVCAFIVLENLAVLLVLGRHPRFHAPMFLLLGSLTL
SDLLAGAAYAANILLSGPLTLKLSPALWFAREGGVFVALTASVLSLLAIALERSLTMARRGPAPVSSRGRTLAMAAAAWG
VSLLLGLLPALGWNCLGRLDACSTVLPLYAKAYVLFCVLAFVGILAAICALYARIYCQVRANARRLPARPGTAGTTSTRA
RRKPRSLALLRTLSVVLLAFVACWGPLFLLLLLDVACPARTCPVLLQADPFLGLAMANSLLNPIIYTLTNRDLRHALLRL
VCCGRHSCGRDPSGSQQSASAAEASGGLRRCLPPGLDGSFSGSERSSPQRDGLDTSGSTGSPGAPTAARTLVSKPAAD*

Gene Symbol:S1PR5
Accession:NM_001166215
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGLLRPAPVSEVIVLHYNYTGKLRGARYQPGAGLRADAVVCLAVCAFIVLENLAVLLVLGRHPRFHAPMFLLLGSLTL
SDLLAGAAYAANILLSGPLTLKLSPALWFAREGGVFVALTASVLSLLAIALERSLTMARRGPAPVSSRGRTLAMAAAAWG
VSLLLGLLPALGWNCLGRLDACSTVLPLYAKAYVLFCVLAFVGILAAICALYARIYCQVRANARRLPARPGTAGTTSTRA
RRKPRSLALLRTLSVVLLAFVACWGPLFLLLLLDVACPARTCPVLLQADPFLGLAMANSLLNPIIYTLTNRDLRHALLRL
VCCGRHSCGRDPSGSQQSASAAEASGGLRRCLPPGLDGSFSGSERSSPQRDGLDTSGSTGSPGAPTAARTLVSKPAAD*
.


Database
Acc Id
Source(s)
ClinVar RCV004447281 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene S1PR5 CLINVAR
OMIM 605146 CLINVAR