Unique variants in gene B3GALNT2

Information The variants shown are described using the NM_152490.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Reported     

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     
./. 1 - c.-170G>C r.(=) p.(=) g.235667722C>G - B3GALNT2_000034 rs150368565 0.007874 4 508 1621 - - Admin
./. 1 - c.-160G>A r.(=) p.(=) g.235667712C>T - B3GALNT2_000033 rs998025038 0.001953 1 512 1939 1 - Admin
./. 1 - c.-138T>C r.(=) p.(=) g.235667690A>G - B3GALNT2_000032 rs291348 0.541 278 514 3111 - - Admin
./. 1 - c.99G>A r.(=) p.(=) g.235667454C>T - B3GALNT2_000031 rs887782159 0.001946 1 514 3460 1 - Admin
./. 1 - c.112+9C>T r.(=) p.(=) g.235667432G>A - B3GALNT2_000030 rs1055699299 0.001946 1 514 2402 1 - Admin
./. 1 - c.112+38G>C r.(=) p.(=) g.235667403C>G - B3GALNT2_000029 rs866235710 0.002 1 500 1472 1 - Admin
./. 1 - c.112+42del r.(=) p.(=) g.235667399del - B3GALNT2_000028 rs149884283 0.194 93 480 1402 - - Admin
./. 1 - c.113-1499A>T r.(=) p.(=) g.235659637T>A - B3GALNT2_000027 rs144398872 0.001976 1 506 1731 - - Admin
./. 1 - c.113-1484del r.(=) p.(=) g.235659622del - B3GALNT2_000026 rs746198120 0.03 14 464 1533 - - Admin
./. 1 - c.113-1484dup r.(=) p.(=) g.235659622dup - B3GALNT2_000025 rs746198120 0.03 14 464 1533 - - Admin
./. 1 - c.113-115G>A r.(=) p.(=) g.235658253C>T - B3GALNT2_000024 rs12067255 0.005814 3 516 6916 - - Admin
./. 1 - c.113-46G>C r.(=) p.(=) g.235658184C>G - B3GALNT2_000023 rs116818562 0.003876 2 516 5553 - - Admin
./. 1 - c.260+75T>G r.(=) p.(=) g.235657916A>C - B3GALNT2_000022 rs545204715 0.001938 1 516 2377 - - Admin
./. 1 - c.261-113_261-110del r.(=) p.(=) g.235652683_235652686del - B3GALNT2_000021 rs560043310 0.003876 2 516 4798 - - Admin
./. 1 - c.321A>G r.(=) p.(=) g.235652513T>C - B3GALNT2_000020 rs291396 0.56 289 516 6343 - - Admin
./. 1 - c.361+19T>C r.(=) p.(=) g.235652454A>G - B3GALNT2_000019 rs190977329 0.001938 1 516 3428 - - Admin
./. 1 - c.411G>A r.(=) p.(=) g.235647782C>T - B3GALNT2_000018 rs1443841724 0.001938 1 516 8045 1 - Admin
./. 1 - c.555+7C>A r.(=) p.(=) g.235647631G>T - B3GALNT2_000017 rs291387 0.556 287 516 3027 - - Admin
./. 1 - c.556-56C>T r.(=) p.(=) g.235643521G>A - B3GALNT2_000016 rs143536835 0.001938 1 516 4060 - - Admin
./. 1 - c.651+134T>A r.(=) p.(=) g.235643236A>T - B3GALNT2_000015 rs79887983 0.003876 2 516 2037 - - Admin
./. 1 - c.687C>T r.(=) p.(=) g.235634239G>A - B3GALNT2_000014 - 0.001938 1 516 5526 1 - Admin
./. 1 - c.762+114_762+115del r.(=) p.(=) g.235634049_235634050del - B3GALNT2_000013 rs540473438 0.002222 1 450 634 - - Admin
./. 1 - c.841+45C>T r.(=) p.(=) g.235628908G>A - B3GALNT2_000012 rs1305556 0.539 278 516 3187 - - Admin
./. 1 - c.1026-40_1026-37del r.(=) p.(=) g.235619033_235619036del - B3GALNT2_000011 rs138874913 0.001938 1 516 8519 1 - Admin
./. 1 - c.1026-34C>T r.(=) p.(=) g.235619030G>A - B3GALNT2_000010 rs755568214 0.001938 1 516 8408 - - Admin
./. 1 - c.1026-31A>G r.(=) p.(=) g.235619027T>C - B3GALNT2_000009 - 0.001938 1 516 8519 1 - Admin
./. 1 - c.1151+35G>A r.(=) p.(=) g.235618836C>T - B3GALNT2_000008 rs994592441 0.001938 1 516 3713 1 - Admin
./. 1 - c.1151+82_1151+83insT r.(=) p.(=) g.235618788_235618789insA - B3GALNT2_000007 rs541342884 - - - - - - Admin
./. 1 - c.1178G>A r.(?) p.(Arg393Gln) g.235617601C>T - B3GALNT2_000006 rs140708018 0.001938 1 516 4226 - - Admin
./. 1 - c.1311+62G>A r.(=) p.(=) g.235617406C>T - B3GALNT2_000005 rs539118370 0.001938 1 516 1840 - - Admin
./. 1 - c.1368+55A>G r.(=) p.(=) g.235616347T>C - B3GALNT2_000004 rs189833358 0.001938 1 516 4684 - - Admin
./. 1 - c.1368+93A>G r.(=) p.(=) g.235616309T>C - B3GALNT2_000003 rs6702967 0.097 50 516 3245 - - Admin
./. 1 - c.1369-106A>G r.(=) p.(=) g.235613761T>C - B3GALNT2_000002 rs140712438 0.005814 3 516 2226 - - Admin
./. 1 - c.1369-72T>C r.(=) p.(=) g.235613727A>G - B3GALNT2_000001 rs41308204 0.016 8 516 3571 - - Admin
./. 1 - c.*1302A>T r.(=) p.(=) g.235612219T>A - TBCE_000066 rs7537 0.095 49 516 10350 - - Admin
./. 1 - c.*1451C>T r.(=) p.(=) g.235612070G>A - TBCE_000065 rs140662460 0.001938 1 516 8863 - - Admin
./. 1 - c.*1580T>G r.(=) p.(=) g.235611941A>C - TBCE_000064 rs200912876 0.001938 1 516 2996 - - Admin
./. 1 - c.*1618G>A r.(=) p.(=) g.235611903C>T - TBCE_000063 rs142933516 0.005929 3 506 2253 - - Admin
./. 1 - c.*1653_*1656del r.(=) p.(=) g.235611865_235611868del - TBCE_000062 rs551940262 0.014 7 508 2374 - - Admin
./. 1 - c.*1719C>T r.(=) p.(=) g.235611802G>A - TBCE_000061 rs371655030 0.001938 1 516 3489 - - Admin
./. 1 - c.*1983_*1985del r.(=) p.(=) g.235611536_235611538del - TBCE_000060 rs76311923 0.003049 1 328 1066 - - Admin
./. 1 - c.*1996T>G r.(=) p.(=) g.235611525A>C - TBCE_000059 rs78421351 0.027 12 440 845 - - Admin
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