RGD:156089142 Rat Genome Database

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Variant: RGD:156089142 -  Homo sapiens

RGD ID: 156089142
ClinVar ID: CV2344355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNTG2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 1,271,336
GRCh38 2 1,267,564
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.1277G>A
NG_029707.2:g.321717G>A
NG_029707.1:g.329783G>A
NC_000002.12:g.1267564G>A
More... 		09/16/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SNTG2
Accession:NM_018968
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHV
FNVELGSELAMWEKSFQRATFMEVQKTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR
VKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004362
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQKTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKVQKRKSVKQLKEATTGDLEG
TIMRGATTSGHTALRRAERESRLRPWSPNLYLDHAAACPNPEKLTRSLSSITQTRAR*

Gene Symbol:SNTG2
Accession:XM_017004365
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQKTGNEEQRKPK*

Gene Symbol:SNTG2
Accession:XM_017004366
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQKTGQIHHSQI*

Gene Symbol:SNTG2
Accession:XM_017004361
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQKTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKT
RVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004363
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSVWAEATRAGITVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVH
LLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDT
LSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVH
MGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDF
DFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQKTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTK
NVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS
*

Gene Symbol:SNTG2
Accession:XM_017004364
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVPFNLFANPFSFFFFSFFFVRQSLTLLPRLECSADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVE
YLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYK
AGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSS
QTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVA
GHGKSHVFNVELGSELAMWEKSFQRATFMEVQKTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGS
SDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_047444794
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGN
SSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVS
ANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEV
LFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQKTGSRTYM
CSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSF
IAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004374
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004372
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004371
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004368
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004370
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004369
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_047444795
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_047444798
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004195111 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SNTG2 CLINVAR
OMIM 608715 CLINVAR