RGD:401922120 Rat Genome Database

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Variant: RGD:401922120 -  Homo sapiens

RGD ID: 401922120
ClinVar ID: CV2819916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 12,046,186
GRCh38 3 12,004,712
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011728.3:g.5326C>T
NC_000003.12:g.12004712C>T
NC_000003.11:g.12046186C>T
NP_003169.2:p.Ala54Val
More... 		06/01/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SYN2
Accession:NM_133625
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTVSPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLIIGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQSGTLKDPDSSKTPPQRPPPQGGPGQPQGMQPPGKVLPPRRLPPG
PSLPPSSSSSSSSSSSAPQRPGGPTTHGDAPSSSSSLAEAQPPLAAPPQKPQPHPQLNKSQSLTNAFSFSESSFFRSSAN
EDEAKAETIRSLRKSFASLFSD*

Gene Symbol:SYN2
Accession:XM_006713311
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTVSPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLIIGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQLSILLGLQELLSPACLPKATGWHFKVTFDKNPQTLIHGLGFCHR
PVISFPIISRANIYHFCKDLAGTKQYTEGMV*

Gene Symbol:SYN2
Accession:NM_003178
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTVSPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLIIGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQSGTLKDPDSSKTPPQRPPPQGCLQYILDCNGIAVGPKQVQAS*

Gene Symbol:SYN2
Accession:XM_006713312
Location:INTRON

Gene Symbol:SYN2
Accession:XM_017007087
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713313
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003433445 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYN2 CLINVAR
OMIM 600755 CLINVAR