RGD:151892967 Rat Genome Database

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Variant: RGD:151892967 -  Homo sapiens

RGD ID: 151892967
RS ID: rs764945265
ClinVar ID: CV1411719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 202,574,843
GRCh38 1 202,605,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136504.1:c.58G>A
NM_177402.5:c.58G>A
NG_041776.1:g.109709G>A
NC_000001.11:g.202605715C>T
More... 		11/06/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SYT2
Accession:XM_017000311
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000310
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSIIIGLLQLLILCKISLIYKELLLVLWAGLSQGKTTSGCSPCPLHLSSPAVSSATMRNIFKRNQEPIVAPATTTTTMP
IGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMK
NAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVKVFL
LPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDLQGG
EKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSF
EIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_011509192
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:NM_177402
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:NM_001136504
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000313
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGV
LQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKR
LKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIA
QWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000309
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSIIIGLLQLLILCKISLIYKELLLVLWAGLSQGKTTSGCSPCPLHLSSPAVSSATMRNIFKRNQEPIVAPATTTTTMP
IGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMK
NAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVK
VFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDL
QGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNES
FSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK*

Gene Symbol:SYT2
Accession:XM_017000312
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNIFKRNQEPIVAPATTTTTMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCC
FCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQLPQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLT
VGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDI
IGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQN
GKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRR
PIAQWHSLKPEEEVDALLGKNK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001944651 CLINVAR
dbSNP (RS) rs764945265 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYT2 CLINVAR
OMIM 600104 CLINVAR