RGD:15168414 Rat Genome Database

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Variant: RGD:15168414 -  Homo sapiens

RGD ID: 15168414
RS ID: rs138177213
ClinVar ID: CV723857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYCE1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 135,368,906
GRCh38 10 133,555,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130784.4:c.759C>G
NM_001143763.2:c.867C>G
NM_001143764.3:c.867C>G
NG_052008.1:g.17874C>G
More...
12/31/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SYCE1
Accession:NM_130784
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEMVQKLQKVGSLEPRVEVLINRINEVQQAKKKANKDLGEARTICEALQKELDSLHGEKVHLKEILSKKQETLRILRLHC
QEKESEAHRKHTMLQECKERISALNLQIEEEKNKQRQLRLAFEEQLEDLMGQHKDLWDFHMPERLAKEICALDSSKEQLL
KEEKLVKATLEDVKHQLCSLCGAEGPSTLDEGLFLRSQEAAATVQLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQ
RLKEELEKHGMQVPAQAQSTQEEEAGPGDVAPRPGRPVTWWS*

Gene Symbol:SYCE1
Accession:NM_001143763
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRSLTSKAEPTAGAVDRAEKAGGQDTSSQKIEDLMEMVQKLQKVGSLEPRVEVLINRINEVQQAKKKANKDLGEARTI
CEALQKELDSLHGEKVHLKEILSKKQETLRILRLHCQEKESEAHRKHTMLQECKERISALNLQIEEEKNKQRQLRLAFEE
QLEDLMGQHKDLWDFHMPERLAKEICALDSSKEQLLKEEKLVKATLEDVKHQLCSLCGAEGPSTLDEGLFLRSQEAAATV
QLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQRLKEELEKHGMQVPAQAQSTQEEEAGPGDVAPRPGRPVTWWS*

Gene Symbol:SYCE1
Accession:NM_001143764
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRSLTSKAEPTAGAVDRAEKAGGQDTSSQKIEDLMEMVQKLQKVGSLEPRVEVLINRINEVQQAKKKANKDLGEARTI
CEALQKELDSLHGEKVHLKEILSKKQETLRILRLHCQEKESEAHRKHTMLQECKERISALNLQIEEEKNKQRQLRLAFEE
QLEDLMGQHKDLWDFHMPERLAKEICALDSSKEQLLKEEKLVKATLEDVKHQLCSLCGAEGPSTLDEGLFLRSQEAAATV
QLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQRLKEELEKHGMQVPAQAQSTQEEEAGPGDVASPKPLKGERPGAA
HQAGPDVLIGQEDTLHPDLSPRGFQEIKELF*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000883058 CLINVAR
dbSNP (RS) rs138177213 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYCE1 CLINVAR
OMIM 611486 CLINVAR