RGD:329357472 Rat Genome Database

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Variant: RGD:329357472 -  Homo sapiens

RGD ID: 329357472
ClinVar ID: CV2427736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNTG2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 1,371,121
GRCh38 2 1,367,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_094132.1:g.703G>A
NP_061841.2:p.Glu499Lys
NM_018968.4:c.1495G>A
NG_029707.2:g.421502G>A
More... 		01/31/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SNTG2
Accession:NM_018968
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHV
FNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR
VKLLFQNLDTKQIETKELKFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004361
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 500
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQ
PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP
AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL
RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK
FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH
VFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKT
RVKLLFQNLDTKQIETKELKFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004363
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSVWAEATRAGITVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVH
LLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDT
LSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVH
MGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDF
DFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTK
NVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELKFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS
*

Gene Symbol:SNTG2
Accession:XM_017004364
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVPFNLFANPFSFFFFSFFFVRQSLTLLPRLECSADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVE
YLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYK
AGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSS
QTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVA
GHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGS
SDDGKTRVKLLFQNLDTKQIETKELKFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_047444794
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGN
SSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVS
ANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEV
LFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYM
CSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELKFQDLRAVLHCIHSF
IAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_017004374
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004362
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004372
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004371
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004365
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004366
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 RCV004252520 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SNTG2 CLINVAR
OMIM 608715 CLINVAR