RGD:13538316 Rat Genome Database

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Variant: RGD:13538316 -  Homo sapiens

RGD ID: 13538316
RS ID: rs73922356
ClinVar ID: CV497308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: S1PR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 10,334,910
GRCh38 19 10,224,234
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046802.1:g.12574C>T
NC_000019.10:g.10224234G>A
NC_000019.9:g.10334910G>A
p.Ala224Ala
More... 		12/18/2019 synonymous variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:S1PR2
Accession:NM_004230
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSLYSEYLNPNKVQEHYNYTKETLETQETTSRQVASAFIVILCCAIVVENLLVLIAVARNSKFHSAMYLFLGNLAASDL
LAGVAFVANTLLSGSVTLRLTPVQWFAREGSAFITLSASVFSLLAIAIERHVAIAKVKLYGSDKSCRMLLLIGASWLISL
VLGGLPILGWNCLGHLEACSTVLPLYAKHYVLCVVTIFSIILLAIVALYVRIYCVVRSSHADMAAPQTLALLKTVTIVLG
VFIVCWLPAFSILLLDYACPVHSCPILYKAHYFFAVSTLNSLLNPVIYTWRSRDLRREVLRPLQCWRPGVGVQGRRRGGT
PGHHLLPLRSSSSLERGMHMPTSPTFLEGNTVV*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611647 CLINVAR
  RCV000957720 CLINVAR
dbSNP (RS) rs73922356 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene S1PR2 CLINVAR
OMIM 605111 CLINVAR