Unique variants in gene UAP1

Information The variants shown are described using the NM_003115.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.280+4190A>G - - g.162570538A>G - UAP1_000003 rs7545344 0.0485 31 1 Admin
./. 1 - c.281-2250C>T - - g.162574527C>T - UAP1_000004 rs10917568 0.1485 59 21 Admin
./. 1 - c.485+8C>T - - g.162576989C>T - UAP1_000005 rs6700714 0.0235 10 3 Admin
./. 1 - c.485+91A>G r.(=) p.(=) g.162577072A>G - UAP1_000006 rs12129762 0.0618 36 3 Admin
./. 1 - c.485+394C>T r.(=) p.(=) g.162577375C>T - UAP1_000007 rs10159238 0.9500 18 313 Admin
./. 1 - c.834+2889G>T - - g.162584348G>T - UAP1_000008 rs16863635 0.2574 118 28 Admin
./. 1 - c.1169+81A>G - - g.162588914A>G - UAP1_000009 rs12022205 0.7132 106 189 Admin
./. 1 - c.1170-635A>G r.(=) p.(=) g.162589688A>G - UAP1_000001 rs6672561 0.7191 130 179 Admin
./. 1 - c.1426-39A>C r.(=) p.(=) g.162599232A>C - UAP1_000002 rs12090991 0.0426 19 5 Admin
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