All transcript variants in gene B3GALNT1

Information The variants shown are described using the NM_033167.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-427-52G>T r.(=) p.(=) g.160822246C>A - B3GALNT1_000017 rs59776766 0.016 8 506 1774 - - Admin
./. - c.-427-4A>C r.spl? p.? g.160822198T>G - B3GALNT1_000016 rs34032455 0.005814 3 516 3155 - - Admin
./. - c.-356T>G r.(=) p.(=) g.160822123A>C - B3GALNT1_000015 rs190148089 0.003876 2 516 3803 - - Admin
./. - c.-340+25G>C r.(=) p.(=) g.160822082C>G - B3GALNT1_000014 rs1037128614 0.003876 2 516 4394 2 0 Admin
./. - c.-340+138T>C r.(=) p.(=) g.160821969A>G - B3GALNT1_000013 rs7617204 0.475 244 514 2619 - - Admin
./. - c.-340+178A>G r.(=) p.(=) g.160821929T>C - B3GALNT1_000012 rs7651087 0.408 204 500 1534 - - Admin
./. - c.-325T>G r.(=) p.(=) g.160821291A>C - B3GALNT1_000011 rs774378292 0.001938 1 516 2648 - - Admin
./. - c.-249+20_-249+24del r.(=) p.(=) g.160821191_160821195del - B3GALNT1_000010 rs369335123 0.05 26 516 3276 - - Admin
./. - c.-249+100G>A r.(=) p.(=) g.160821115C>T - B3GALNT1_000009 rs36051722 0.05 26 516 3276 - - Admin
./. - c.-248-203T>C r.(=) p.(=) g.160819224A>G - B3GALNT1_000008 rs35474158 0.012 6 514 1992 - - Admin
./. - c.-248-53A>G r.(=) p.(=) g.160819074T>C - B3GALNT1_000007 rs1054457047 0.001938 1 516 7960 1 0 Admin
./. - c.-150T>A r.(=) p.(=) g.160807847A>T - B3GALNT1_000006 rs34184112 0.014 7 516 3052 - - Admin
./. - c.-143C>T r.(=) p.(=) g.160807840G>A - B3GALNT1_000005 rs113897966 0.005814 3 516 2722 - - Admin
./. - c.-35+5G>A r.spl? p.? g.160807727C>T - B3GALNT1_000004 rs951221749 0.004098 2 488 935 0 1 Admin
./. - c.-34-124G>A r.(=) p.(=) g.160804700C>T - B3GALNT1_000003 rs2231255 0.004032 2 496 1224 - - Admin
./. - c.-27G>A r.(=) p.(=) g.160804569C>T - B3GALNT1_000002 rs2231256 0.014 7 516 6526 - - Admin
./. - c.376G>A r.(?) p.(Asp126Asn) g.160804167C>T - B3GALNT1_000001 rs2231257 0.05 26 516 6814 - - Admin
Legend