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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term SLC16A2:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000147100	SLC16A2	1	0	42	ENSG00000147100	ENST00000587091	ENSP00000465734	solute carrier family 16, member 2 (thyroid hormone transporter) [Source:HGNC Symbol;Acc:10923]	X	73641085	73753752	1	q13.2	73641296	73753752	SLC16A2	SLC16A2-001	HGNC Symbol	HGNC transcript name	3	43.64	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	6567	10923	SLC16A2	NM_006517	27516

MSeqDR Master Exome Data Set M1: 80 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	X	73641206	G	A	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	-	-	5'_UTR	NA	-	-	lod=148:503	-	-	-	het	1
2	X	73641358	A	+GGCAGC	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.108_109insGGCAGC	p.G37NA	non-syn	NA	-	-	lod=117:478	-	-	-	het	1
3	X	73641358	A	+GGCAGC	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	-	-	5'_UTR	NA	-	-	lod=117:478	-	-	-	het	1
4	X	73641420	A	C	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.170A>C	p.Y57S	non-syn	NA	-	-	lod=36:352	DAMAGING	NA	-	het	1
5	X	73641420	A	C	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	-	-	5'_UTR	NA	-	-	lod=36:352	DAMAGING	NA	-	het	1
6	X	73641569	T	C	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.319T>C	p.S107P	non-syn	rs6647476	0.7158	C=2383/T=4050;C=2247/T=1352;C=4630/T=5402	lod=18:278	TOLERATED	NA	-	het	192
7	X	73641569	T	C	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.319T>C	p.S107P	non-syn	rs6647476	0.7158	C=2383/T=4050;C=2247/T=1352;C=4630/T=5402	lod=18:278	TOLERATED	NA	-	hom	198
8	X	73641569	T	C	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.97T>C	p.S33P	non-syn	rs6647476	0.7158	C=2383/T=4050;C=2247/T=1352;C=4630/T=5402	lod=18:278	TOLERATED	NA	-	het	192
9	X	73641569	T	C	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.97T>C	p.S33P	non-syn	rs6647476	0.7158	C=2383/T=4050;C=2247/T=1352;C=4630/T=5402	lod=18:278	TOLERATED	NA	-	hom	198
10	X	73641583	T	-GAGCCC	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.334_339del	p.E112NA	non-syn	NA	-	-	lod=16:265	-	-	-	het	2
11	X	73641583	T	-GAGCCC	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.112_117del	p.E38NA	non-syn	NA	-	-	lod=16:265	-	-	-	het	2
12	X	73641601	C	A	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.351C>A	p.P117P	syn	NA	-	-	-	-	-	-	het	1
13	X	73641601	C	A	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.129C>A	p.P43P	syn	NA	-	-	-	-	-	-	het	1
14	X	73641728	C	T	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.478C>T	p.R160C	non-syn	NA	-	-	lod=647:661	TOLERATED	NA	-	het	1
15	X	73641728	C	T	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.256C>T	p.R86C	non-syn	NA	-	-	lod=647:661	TOLERATED	NA	-	het	1
16	X	73740841	C	T	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.669C>T	p.L223L	syn	rs200444038	-	T=5/C=6723;T=1/C=3834;T=6/C=10557	lod=514:636	-	-	-	het	2
17	X	73740841	C	T	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.669C>T	p.L223L	syn	rs200444038	-	T=5/C=6723;T=1/C=3834;T=6/C=10557	lod=514:636	-	-	-	hom	1
18	X	73740841	C	T	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.447C>T	p.L149L	syn	rs200444038	-	T=5/C=6723;T=1/C=3834;T=6/C=10557	lod=514:636	-	-	-	het	2
19	X	73740841	C	T	ENST00000587091	ENSG00000147100	73641085	73753752	ENSP00000465734	SLC16A2	1	MOT8_HUMAN	c.447C>T	p.L149L	syn	rs200444038	-	T=5/C=6723;T=1/C=3834;T=6/C=10557	lod=514:636	-	-	-	hom	1
20	X	73744497	G	A	ENST00000276033	ENSG00000147100	73641085	73753752	ENSP00000276033	SLC16A2	1	MOT8_HUMAN	c.1101G>A	p.K367K	syn	NA	-	-	lod=488:631	-	-	-	hom	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding SLC16A2 X:73641085..73753752 region Gbrowse