RGD:156161123 Rat Genome Database

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Variant: RGD:156161123 -  Homo sapiens

RGD ID: 156161123
ClinVar ID: CV2311720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNTG2  SNTG2-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 946,725
GRCh38 2 951,039
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.43C>G
NG_029707.1:g.5172C>G
NG_029707.2:g.5192C>G
NC_000002.12:g.951039C>G
More... 		11/01/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SNTG2
Accession:NM_018968
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGGQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHV
FNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR
VKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:SNTG2
Accession:XM_047444795
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTEGPPPPAASRGGQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQP
VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR
WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF
LALKGPSFYVFSTPPQPTSYLNYKLRRT*

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_017004361
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004363
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_017004364
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_047444798
Location:INTRON

Gene Symbol:SNTG2
Accession:XM_047444794
Location:INTRON

Gene Symbol:SNTG2-AS1
Accession:NR_136151
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004170589 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SNTG2 CLINVAR
  SNTG2-AS1 CLINVAR
OMIM 608715 CLINVAR