Full data view for gene SHH

Information The variants shown are described using the NM_000193.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.831 Control 590 710 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Parent #2 g.155807723T>C dbSNP SHH_000001 0.500 Patients_Q37.0 1 2 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.0 (IDC-10 Version 2016) 1 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.500 Patients_Q37.2 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.2 (IDC-10 Version 2016) 2 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.750 Patients_Q37.3_left 3 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Left (IDC-10 Version 2016) 2 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.500 Patients_Q37.3_right 3 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.726 Patients_Q37.4 77 106 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 1.000 Patients_Q37.5 4 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 (IDC-10 Version 2016) 2 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.771 Patients_Q37.5_left 91 118 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.826 Patients_Q37.5_right 38 46 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.301-1166A>G - r.(=) p.(=) - Unknown g.155807723T>C dbSNP SHH_000001 0.879 Patients_Q37 51 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
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