RGD:13609780 Rat Genome Database

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Variant: RGD:13609780 -  Homo sapiens

RGD ID: 13609780
RS ID: rs766670891
ClinVar ID: CV534425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRPX2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 99,905,798
GRCh38 X 100,650,801
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.100650801G>T
NC_000023.10:g.99905798G>T
NP_055282.1:p.Pro33=
NG_021337.1:g.11636G>T
More... 		06/12/2018 synonymous variant likely benign Rolandic epilepsy, impaired intellectual development, and speech dyspraxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRPX2
Accession:NM_014467
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYH
SSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRS
RICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICA
PMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSAN
IIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001399719 CLINVAR
dbSNP (RS) rs766670891 CLINVAR
MedGen C1845070 CLINVAR
NCBI Gene SRPX2 CLINVAR
OMIM 300642 CLINVAR
  300643 CLINVAR