RGD:15197888 Rat Genome Database

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Variant: RGD:15197888 -  Homo sapiens

RGD ID: 15197888
RS ID: rs2229653
ClinVar ID: CV726564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 29,675,114
GRCh38 16 29,663,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001030288.4:c.65C>T
NM_003123.6:c.65C>T
NC_000016.10:g.29663793C>T
NC_000016.9:g.29675114C>T
More... 		07/13/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPN
Accession:NM_003123
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLLLLLGVLVVSPDALGSTIAVQTPTSGEPLVSTSEPLSSKMYTTSITSDPKADSTGDQTSALPPSTSINEGSPLWTS
IGASTGSPLPEPTTYQEVSIKMSSVPQETPHATSHPAVPITANSLGSHTVTGGTITTNSPETSSRTSGAPVTTAASSLET
SRGTSGPPLTMATVSLETSKGTSGPPVTMATDSLETSTGTTGPPVTMTTGSLEPSSGASGPQVSSVKLSTMMSPTTSTNA
STVPFRNPDENSRGMLPVAVLVALLAVIVLVALLLLWRRRQKRRTGALVLSRGGKRNGVVDAWAGPAQVPEEGAVTVTVG
GSGGDKGSGFPDGEGSSRRPTLTTFFGRRKSRQGSLAMEELKSGSGPSLKGEEEPLVASEDGAVDAPAPDEPEGGDGAAP
*

Gene Symbol:SPN
Accession:NM_001030288
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLLLLLGVLVVSPDALGSTIAVQTPTSGEPLVSTSEPLSSKMYTTSITSDPKADSTGDQTSALPPSTSINEGSPLWTS
IGASTGSPLPEPTTYQEVSIKMSSVPQETPHATSHPAVPITANSLGSHTVTGGTITTNSPETSSRTSGAPVTTAASSLET
SRGTSGPPLTMATVSLETSKGTSGPPVTMATDSLETSTGTTGPPVTMTTGSLEPSSGASGPQVSSVKLSTMMSPTTSTNA
STVPFRNPDENSRGMLPVAVLVALLAVIVLVALLLLWRRRQKRRTGALVLSRGGKRNGVVDAWAGPAQVPEEGAVTVTVG
GSGGDKGSGFPDGEGSSRRPTLTTFFGRRKSRQGSLAMEELKSGSGPSLKGEEEPLVASEDGAVDAPAPDEPEGGDGAAP
*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000890195 CLINVAR
  RCV003975614 CLINVAR
dbSNP (RS) rs2229653 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPN CLINVAR
OMIM 182160 CLINVAR