RGD:156388324 Rat Genome Database

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Variant: RGD:156388324 -  Homo sapiens

RGD ID: 156388324
ClinVar ID: CV2231782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 12,187,259
GRCh38 3 12,145,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003178.6:c.608T>C
NM_133625.6:c.608T>C
NG_011728.2:g.146372T>C
NG_011728.3:g.146373T>C
More... 		07/14/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SYN2
Accession:NM_133625
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTASPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLITGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQSGTLKDPDSSKTPPQRPPPQGGPGQPQGMQPPGKVLPPRRLPPG
PSLPPSSSSSSSSSSSAPQRPGGPTTHGDAPSSSSSLAEAQPPLAAPPQKPQPHPQLNKSQSLTNAFSFSESSFFRSSAN
EDEAKAETIRSLRKSFASLFSD*

Gene Symbol:SYN2
Accession:NM_003178
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTASPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLITGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQSGTLKDPDSSKTPPQRPPPQGCLQYILDCNGIAVGPKQVQAS*

Gene Symbol:SYN2
Accession:XM_006713311
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTASPGPERRPPPASAPAPQPAPTPSVGS
SFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLITGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIG
NNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQV
EDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQLSILLGLQELLSPACLPKATGWHFKVTFDKNPQTLIHGLGFCHR
PVISFPIISRANIYHFCKDLAGTKQYTEGMV*

Gene Symbol:SYN2
Accession:XM_006713312
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713313
Location:INTRON

Gene Symbol:SYN2
Accession:XM_017007087
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004098594 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SYN2 CLINVAR
OMIM 600755 CLINVAR