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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 MC1R:

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
ENSG00000258839	MC1R	0	0	10	ENSG00000258839	ENST00000539976		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) [Source:HGNC Symbol;Acc:6929]	16	89978527	89987385	1	q24.3	89978527	89981576	MC1R	MC1R-003	HGNC Symbol	HGNC transcript name	3	58.16	protein_coding	retained_intron	havana	havana	KNOWN	KNOWN	4157	6929	MC1R		27514

MSeqDR Master Exome Data Set M1: 418 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	16	89979959	G	A	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.847G>A	p.A283T	non-syn	rs8060848	0.7625	-	-	-	-	-	het	7
2	16	89979959	G	A	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.847G>A	p.A283T	non-syn	rs8060848	0.7625	-	-	-	-	-	hom	1
3	16	89979959	G	A	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs8060848	0.7625	-	-	-	-	-	het	7
4	16	89979959	G	A	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs8060848	0.7625	-	-	-	-	-	hom	1
5	16	89980032	C	G	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.920C>G	p.P307R	non-syn	NA	-	-	-	-	-	-	het	1
6	16	89980032	C	G	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	16	89980068	G	A	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.956G>A	p.R319Q	non-syn	NA	-	-	-	-	-	-	het	2
8	16	89980068	G	A	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	16	89980158	A	G	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1046A>G	p.Q349R	non-syn	rs62052210	0.1299	-	-	-	-	-	het	14
10	16	89980158	A	G	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1046A>G	p.Q349R	non-syn	rs62052210	0.1299	-	-	-	-	-	hom	1
11	16	89980158	A	G	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs62052210	0.1299	-	-	-	-	-	het	14
12	16	89980158	A	G	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs62052210	0.1299	-	-	-	-	-	hom	1
13	16	89980316	T	C	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1204T>C	p.C402R	non-syn	rs62052211	0.773	-	-	-	-	-	het	2
14	16	89980316	T	C	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs62052211	0.773	-	-	-	-	-	het	2
15	16	89980397	C	+GCAT	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1285_1286insGCAT	p.H429NA	non-syn	NA	-	-	-	-	-	-	het	1
16	16	89980397	C	+GCAT	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	16	89980398	A	+CG	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1286_1287insCG	p.H429NA	non-syn	NA	-	-	-	-	-	-	het	1
18	16	89980398	A	+CG	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	16	89980399	C	T	ENST00000539976	ENSG00000258839	89978527	89987385	-	MC1R	1	-	c.1287C>T	p.H429H	syn	rs192154596	0.00191	-	-	-	-	-	het	2
20	16	89980399	C	T	ENST00000555427	ENSG00000258839	89978527	89987385	ENSP00000451760	MC1R	1	-	-	-	5'_UTR	rs192154596	0.00191	-	-	-	-	-	het	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 MC1R 16:89978527..89987385 region Gbrowse