Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes

BMC Research Notes

Table 1 Genetic regions included in the custom AmpliSeq™ vitamin D panel

Type	Name	Chr	Amplicon start and end point	Amplicons	Coverage	Reason for missed coverage
Gene	CUBN	10		143	0.89059
Gene	CYP24A1	20		28	0.9426
Gene	CYP27B1	12		21	0.9049
Gene	CYP2R1	11		14	1
Gene	GC	4		27	0.8084
Gene	NADSYN1	11		34	0.9829
Gene	VDR	12		39	0.901
SNP	rs10741657	11		0	0	Repetitive region
SNP	rs10875694	12		0	0	Repetitive region
SNP	rs11168275	12	48272163–48272406	1	1
SNP	rs11168287	12	48285285–48285546	1	1
SNP	rs11168314	12		0	0	Repetitive region
SNP	rs12721366	12	48245439–48245713	1	1
SNP	rs12785878	11		1	1
SNP	rs12794714	11		0	1
SNP	rs1544410	12	48239730–48239989	1	1
SNP	rs1989969	12	48277824–48278036	1	1
SNP	rs2060793	11		0	0	Repetitive region
SNP	rs2071358	12	48366302–48366575	1	1
SNP	rs2107301	12	48255540–48255664	1	1
SNP	rs2189480	12	48263731–48263939	1	1
SNP	rs2228570	12	48272752–48272975	1	1
SNP	rs2238135	12	48278010–48278284	1	1
SNP	rs2238139	12	48256146–48256419	1	1
SNP	rs2239181	12	48255772–48256045	1	1
SNP	rs2239182	12		0	0	Repetitive region
SNP	rs2298850	4	72614158–72614402	1	1
SNP	rs2408876	12	48273431–48273704	1	1
SNP	rs2544038	12	48215081–48215350	1	1
SNP	rs2544043	12		0	0	Repetitive region
SNP	rs3740165	10		0	1
SNP	rs3782905	12	48266129–48266327	1	1
SNP	rs3922882	12	48284784–48284997	1	1
SNP	rs3923693	12	48337491–48337729	1	1
SNP	rs4073729	12	48337000–48337176	1	1
SNP	rs4303288	12	48336602–48336727	1	0.5	Repetitive region
SNP	rs4646536	12		0	1
SNP	rs4760674	12		0	0	Repetitive region
SNP	rs6013897	20		0	0	Repetitive region
SNP	rs6823	12	48362278–48362509	1	1
SNP	rs7299460	12	48296145–48296402	1	1
SNP	rs731236	12	48238644–48238859	1	1
SNP	rs739837	12	48238171–48238400	1	1
SNP	rs7974708	12		1	1
SNP	rs7975232	12		1	1

ISSN: 1756-0500