RGD:401887291 Rat Genome Database

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Variant: RGD:401887291 -  Homo sapiens

RGD ID: 401887291
ClinVar ID: CV2771865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPN  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 29,676,092
GRCh38 16 29,664,771
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.1043G>T
NM_003123.6:c.1043G>T
NC_000016.10:g.29664771G>T
NC_000016.9:g.29676092G>T
More... 		06/23/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPN
Accession:NM_001030288
Location:EXON
Amino Acid Prediction: R to I (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLLLLLGVLVVSPDALGSTTAVQTPTSGEPLVSTSEPLSSKMYTTSITSDPKADSTGDQTSALPPSTSINEGSPLWTS
IGASTGSPLPEPTTYQEVSIKMSSVPQETPHATSHPAVPITANSLGSHTVTGGTITTNSPETSSRTSGAPVTTAASSLET
SRGTSGPPLTMATVSLETSKGTSGPPVTMATDSLETSTGTTGPPVTMTTGSLEPSSGASGPQVSSVKLSTMMSPTTSTNA
STVPFRNPDENSRGMLPVAVLVALLAVIVLVALLLLWRRRQKRRTGALVLSRGGKRNGVVDAWAGPAQVPEEGAVTVTVG
GSGGDKGSGFPDGEGSSRRPTLTTFFGIRKSRQGSLAMEELKSGSGPSLKGEEEPLVASEDGAVDAPAPDEPEGGDGAAP
*

Gene Symbol:SPN
Accession:NM_003123
Location:EXON
Amino Acid Prediction: R to I (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLLLLLGVLVVSPDALGSTTAVQTPTSGEPLVSTSEPLSSKMYTTSITSDPKADSTGDQTSALPPSTSINEGSPLWTS
IGASTGSPLPEPTTYQEVSIKMSSVPQETPHATSHPAVPITANSLGSHTVTGGTITTNSPETSSRTSGAPVTTAASSLET
SRGTSGPPLTMATVSLETSKGTSGPPVTMATDSLETSTGTTGPPVTMTTGSLEPSSGASGPQVSSVKLSTMMSPTTSTNA
STVPFRNPDENSRGMLPVAVLVALLAVIVLVALLLLWRRRQKRRTGALVLSRGGKRNGVVDAWAGPAQVPEEGAVTVTVG
GSGGDKGSGFPDGEGSSRRPTLTTFFGIRKSRQGSLAMEELKSGSGPSLKGEEEPLVASEDGAVDAPAPDEPEGGDGAAP
*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003352330 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SPN CLINVAR
OMIM 182160 CLINVAR