RGD:151730482 Rat Genome Database

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Variant: RGD:151730482 -  Homo sapiens

RGD ID: 151730482
RS ID: rs199542449
ClinVar ID: CV1489463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 202,569,556
GRCh38 1 202,600,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_041776.1:g.114996C>T
NC_000001.11:g.202600428G>A
NC_000001.10:g.202569556G>A
NP_001129976.1:p.Thr283Met
More...
11/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SYT2
Accession:NM_177402
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:NM_001136504
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_011509192
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000312
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000313
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000311
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000310
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSIIIGLLQLLILCKISLIYKELLLVLWAGLSQGKTTSGCSPCPLHLSSPAVSSATMRNIFKRNQEPIVAPATTTATMP
IGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMK
NAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVKVFL
LPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDLQGG
EKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSF
EIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000309
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSIIIGLLQLLILCKISLIYKELLLVLWAGLSQGKTTSGCSPCPLHLSSPAVSSATMRNIFKRNQEPIVAPATTTATMP
IGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMK
NAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVK
VFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDL
QGGEKEEPEKLGDICTSLRYVPMAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNES
FSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001910819 CLINVAR
dbSNP (RS) rs199542449 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYT2 CLINVAR
OMIM 600104 CLINVAR