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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 TMEM240:

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
ENSG00000205090	TMEM240	0	0	5	ENSG00000205090	ENST00000378733	ENSP00000368007	transmembrane protein 240 [Source:HGNC Symbol;Acc:25186]	1	1470554	1475833	-1	p36.33	1470554	1475737	TMEM240	TMEM240-001	HGNC Symbol	HGNC transcript name	2	66.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	339453	25186	TMEM240	NM_001114748	27511

MSeqDR Master Exome Data Set M1: 53 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	1	1470569	T	C	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	lod=110:472	-	-	-	het	1
2	1	1470572	A	-AAG	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	lod=110:472	-	-	-	het	2
3	1	1470603	C	G	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	1470603	C	G	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	1	1470605	C	T	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	1	1470605	C	T	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	1	1470610	G	T	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	1470610	G	T	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	1470656	G	A	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	1	1470656	G	A	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	1	1470664	G	A	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
12	1	1470664	G	A	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	1	1470731	C	T	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	1	1470731	C	T	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	1	1470766	A	G	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	c.495T>C	p.N165N	syn	NA	-	-	lod=565:646	-	-	-	het	1
16	1	1470766	A	G	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	c.495T>C	p.N165N	syn	NA	-	-	lod=565:646	-	-	-	het	1
17	1	1470769	G	A	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	c.492C>T	p.H164H	syn	NA	-	A=1/G=3181;A=28/G=1356;A=29/G=4537	lod=565:646	-	-	-	het	2
18	1	1470769	G	A	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	c.492C>T	p.H164H	syn	NA	-	A=1/G=3181;A=28/G=1356;A=29/G=4537	lod=565:646	-	-	-	het	2
19	1	1470790	G	A	ENST00000378733	ENSG00000205090	1470554	1475833	ENSP00000368007	TMEM240	-1	TM240_HUMAN	c.471C>T	p.H157H	syn	NA	-	-	lod=565:646	-	-	-	hom	1
20	1	1470790	G	A	ENST00000425828	ENSG00000205090	1470554	1475833	ENSP00000400311	TMEM240	-1	TM240_HUMAN	c.471C>T	p.H157H	syn	NA	-	-	lod=565:646	-	-	-	hom	1

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Transcripts and variants in the surrounding TMEM240 1:1470554..1475833 region Gbrowse