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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 TMEM127:

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
ENSG00000135956	TMEM127	0	0	30	ENSG00000135956	ENST00000258439	ENSP00000258439	transmembrane protein 127 [Source:HGNC Symbol;Acc:26038]	2	96914254	96931732	-1	q11.2	96914254	96931732	TMEM127	TMEM127-001	HGNC Symbol	HGNC transcript name	3	51.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	55654	26038	TMEM127	NM_001193304	27508

MSeqDR Master Exome Data Set M1: 81 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	2	96916337	T	-AAC	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs141956691	-	-	-	-	-	-	het	1
2	2	96916346	C	-AA	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	2	96916430	T	C	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	2	96916502	A	C	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	2	96916580	G	C	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs17119378	0.0217	-	-	-	-	-	het	2
6	2	96916701	A	C	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs182729595	0.00185	-	-	-	-	-	het	2
7	2	96917246	C	T	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs117655540	0.0264	-	-	-	-	-	het	1
8	2	96917365	G	C	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	lod=35:349	-	-	-	het	2
9	2	96917404	G	T	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	2	96917404	G	T	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	2	96917425	C	+T	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	lod=46:378	-	-	-	het	1
12	2	96917425	C	+T	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	lod=46:378	-	-	-	het	1
13	2	96917442	G	-AAA	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs3832113	-	-	-	-	-	-	het	1
14	2	96917442	G	-AAA	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs3832113	-	-	-	-	-	-	het	1
15	2	96917442	G	-A	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	2	96917442	G	-A	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	2	96917460	G	A	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs13418193	0.0249	-	-	-	-	-	het	2
18	2	96917460	G	A	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs13418193	0.0249	-	-	-	-	-	het	2
19	2	96917534	G	A	ENST00000258439	ENSG00000135956	96914254	96931732	ENSP00000258439	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs149122699	0.0218	-	-	-	-	-	het	2
20	2	96917534	G	A	ENST00000432959	ENSG00000135956	96914254	96931732	ENSP00000416660	TMEM127	-1	TM127_HUMAN	-	-	3'_UTR	rs149122699	0.0218	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding TMEM127 2:96914254..96931732 region Gbrowse