Unique variants in gene B3GALNT2

Information The variants shown are described using the NM_152490.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.112+3582G>C - - g.235500559C>G - B3GALNT2_000001 rs291344 0.7265 118 188 Admin
./. 1 - c.113-3405G>A - - g.235498233C>T - B3GALNT2_000008 rs696244 0.4426 165 68 Admin
./. 1 - c.261-2269T>C - - g.235491537A>G - B3GALNT2_000007 rs291400 0.5397 157 104 Admin
./. 1 - c.555+589G>A r.(=) p.(=) g.235483733C>T - B3GALNT2_000006 rs291386 0.2618 120 28 Admin
./. 1 - c.841+46G>A - - g.235465590C>T - B3GALNT2_000005 rs1305556 0.5588 164 107 Admin
./. 1 - c.1025+886T>C r.(=) p.(=) g.235457717A>G - B3GALNT2_000004 rs704710 0.4662 161 77 Admin
./. 1 - c.1025+948G>A r.(=) p.(=) g.235457655C>T - B3GALNT2_000003 rs704709 0.4662 155 80 Admin
./. 1 - c.1311+186T>A r.(=) p.(=) g.235453970A>T - B3GALNT2_000002 rs16832625 0.9662 21 317 Admin
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