rs190210611 Rat Genome Database

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Variant: rs190210611 -  Homo sapiens

RGD ID: 15169652
RS ID: rs190210611
ClinVar ID: CV707696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNTG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 1,204,808
GRCh38 2 1,209,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018968.4:c.611C>T
NG_029707.1:g.263255C>T
NC_000002.12:g.1209122C>T
NC_000002.11:g.1204808C>T
More...
03/01/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SNTG2
Accession:NM_018968
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHV
FNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR
VKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004362
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKVQKRKSVKQLKEATTGDLEG
TIMRGATTSGHTALRRAERESRLRPWSPNLYLDHAAACPNPEKLTRSLSSITQTRAR*

Gene Symbol:SNTG2
Accession:XM_017004372
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQLKEKTSCMLSSGGRLTNYLD*

Gene Symbol:SNTG2
Accession:XM_017004371
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQLKEKTSCMLSSGGRLTNYLD*

Gene Symbol:SNTG2
Accession:XM_017004365
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQRTGNEEQRKPK*

Gene Symbol:SNTG2
Accession:XM_017004366
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQRTGQIHHSQI*

Gene Symbol:SNTG2
Accession:XM_017004368
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPQPTSYLNYKLRRT*

Gene Symbol:SNTG2
Accession:XM_017004370
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPS*

Gene Symbol:SNTG2
Accession:XM_017004369
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPCPPVPFSPN*

Gene Symbol:SNTG2
Accession:XM_017004361
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKT
RVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004363
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSVWAEATRAGITVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVH
LLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDT
LSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVH
MGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDF
DFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTK
NVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS
*

Gene Symbol:SNTG2
Accession:XM_017004364
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVPFNLFANPFSFFFFSFFFVRQSLTLLPRLECSADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVE
YLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYK
AGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSS
QTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVA
GHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGS
SDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_047444795
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPQPTSYLNYKLRRT*

Gene Symbol:SNTG2
Accession:XM_047444794
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGN
SSTTAPSSPSLPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVS
ANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEV
LFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYM
CSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSF
IAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004374
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_047444798
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971855 CLINVAR
dbSNP (RS) rs190210611 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNTG2 CLINVAR
OMIM 608715 CLINVAR