RGD:401782190 Rat Genome Database

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Variant: RGD:401782190 - Homo sapiens

RGD ID:

401782190

ClinVar ID:

CV2686581

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SNTG2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	1,093,882
GRCh38	2	1,098,196

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018968.4:c.211C>T NG_029707.1:g.152329C>T NG_029707.2:g.152349C>T NC_000002.12:g.1098196C>T More...	04/06/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	SNTG2
Accession:	NM_018968
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQP VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF LALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHV FNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR VKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:	SNTG2
Accession:	XM_017004374
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTVECVRGARPGRSQLWDPPVLHSPGWHRLAAGGLSQHQGADTS EHEDGEQMLLSFRPAKGKDQLHVIIWWTLN*

Gene Symbol:	SNTG2
Accession:	XM_017004362
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH VFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKVQKRKSVKQLKEATTGDLEG TIMRGATTSGHTALRRAERESRLRPWSPNLYLDHAAACPNPEKLTRSLSSITQTRAR*

Gene Symbol:	SNTG2
Accession:	XM_017004372
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQLKEKTSCMLSSGGRLTNYLD*

Gene Symbol:	SNTG2
Accession:	XM_017004371
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQLKEKTSCMLSSGGRLTNYLD*

Gene Symbol:	SNTG2
Accession:	XM_017004365
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH VFNVELGSELAMWEKSFQRATFMEVQRTGNEEQRKPK*

Gene Symbol:	SNTG2
Accession:	XM_017004366
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH VFNVELGSELAMWEKSFQRATFMEVQRTGQIHHSQI*

Gene Symbol:	SNTG2
Accession:	XM_017004368
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPQPTSYLNYKLRRT*

Gene Symbol:	SNTG2
Accession:	XM_017004370
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPS*

Gene Symbol:	SNTG2
Accession:	XM_017004369
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPCPPVPFSPN*

Gene Symbol:	SNTG2
Accession:	XM_017004361
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKL RWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPK FLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSH VFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKT RVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS*

Gene Symbol:	SNTG2
Accession:	XM_047444795
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQP VGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKF LALKGPSFYVFSTPPQPTSYLNYKLRRT*

Gene Symbol:	SNTG2
Accession:	XM_047444798
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSSIYSADSAACFTRRTWHQLFEQTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNCRTVTLRRQ PVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAP AFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTVECVRGARPGRSQLWDPPVLHSPGWHRLAAGGLSQHQGADTS EHEDGEQMLLSFRPAKGKDQLHVIIWWTLN*

Gene Symbol:	SNTG2
Accession:	XM_017004363
Location:	INTRON

Gene Symbol:	SNTG2
Accession:	XM_017004364
Location:	INTRON

Gene Symbol:	SNTG2
Accession:	XM_047444794
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004300010	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SNTG2	CLINVAR
OMIM	608715	CLINVAR

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:401782190 - Homo sapiens