Unique variants in gene SLC35A2

Information The variants shown are described using the NM_005660.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.30C>G r.(=) p.(=) g.48768884G>C Copied from the Exome Variant Server SLC35A2_000039 4/9597 4/6129 0/3468
1 c.43C>A r.(?) p.(Pro15Thr) g.48768871G>T Copied from the Exome Variant Server SLC35A2_000038 136/9616 130/6123 6/3493
1 c.72G>T r.(?) p.(Glu24Asp) g.48768842C>A Copied from the Exome Variant Server SLC35A2_000037 3/9832 0/6241 3/3591
1 c.92-37C>T r.(=) p.(=) g.48767310G>A Copied from the Exome Variant Server SLC35A2_000036 1/10556 1/6723 0/3833
1 c.92-33G>A r.(=) p.(=) g.48767306C>T Copied from the Exome Variant Server SLC35A2_000035 3/10561 3/6726 0/3835
1 c.92-25C>T r.(=) p.(=) g.48767298G>A Copied from the Exome Variant Server SLC35A2_000034 1/10562 0/6727 1/3835
1 c.92-23C>A r.(=) p.(=) g.48767296G>T Copied from the Exome Variant Server SLC35A2_000033 1/10562 1/6727 0/3835
1 c.92-11G>A r.(=) p.(=) g.48767284C>T Copied from the Exome Variant Server SLC35A2_000032 1/10562 1/6727 0/3835
1 c.169G>A r.(?) p.(Ala57Thr) g.48767196C>T Copied from the Exome Variant Server SLC35A2_000031 1/10563 0/6728 1/3835
1 c.197T>C r.(?) p.(Phe66Ser) g.48767168A>G Copied from the Exome Variant Server SLC35A2_000030 1/10563 0/6728 1/3835
1 c.263C>T r.(?) p.(Ala88Val) g.48767102G>A Copied from the Exome Variant Server SLC35A2_000029 1/10563 0/6728 1/3835
1 c.274+52G>A r.(=) p.(=) g.48767039C>T Copied from the Exome Variant Server SLC35A2_000028 1/4477 1/3069 0/1408
1 c.292G>A r.(?) p.(Val98Ile) g.48763803C>T Copied from the Exome Variant Server SLC35A2_000027 1/10563 1/6728 0/3835
1 c.387G>A r.(=) p.(=) g.48763708C>T Copied from the Exome Variant Server SLC35A2_000026 1/10563 1/6728 0/3835
1 c.497G>A r.(?) p.(Arg166Gln) g.48762689C>T Copied from the Exome Variant Server SLC35A2_000025 1/10559 1/6727 0/3832
1 c.561C>T r.(=) p.(=) g.48762625G>A Copied from the Exome Variant Server SLC35A2_000024 4/10498 0/6690 4/3808
1 c.563G>A r.(?) p.(Gly188Asp) g.48762623C>T Copied from the Exome Variant Server SLC35A2_000023 1/10478 1/6680 0/3798
1 c.747G>A r.(=) p.(=) g.48762439C>T Copied from the Exome Variant Server SLC35A2_000022 2/10557 0/6726 2/3831
1 c.750C>G r.(=) p.(=) g.48762436G>C Copied from the Exome Variant Server SLC35A2_000021 1/10556 1/6724 0/3832
1 c.768C>T r.(=) p.(=) g.48762418G>A Copied from the Exome Variant Server SLC35A2_000020 1/10557 1/6726 0/3831
1 c.942C>T r.(=) p.(=) g.48762244G>A Copied from the Exome Variant Server SLC35A2_000019 2/10563 0/6728 2/3835
1 c.945C>T r.(=) p.(=) g.48762241G>A Copied from the Exome Variant Server SLC35A2_000018 1/10563 0/6728 1/3835
1 c.958G>A r.(?) p.(Val320Met) g.48762228C>T Copied from the Exome Variant Server SLC35A2_000017 1/10563 1/6728 0/3835
1 c.966A>G r.(=) p.(=) g.48762220T>C Copied from the Exome Variant Server SLC35A2_000016 1/10563 1/6728 0/3835
1 c.990C>T r.(=) p.(=) g.48762196G>A Copied from the Exome Variant Server SLC35A2_000015 3/10563 3/6728 0/3835
1 c.1030G>T r.(?) p.(Ala344Ser) g.48762156C>A Copied from the Exome Variant Server SLC35A2_000014 1/10563 1/6728 0/3835
1 c.1062C>T r.(=) p.(=) g.48762124G>A Copied from the Exome Variant Server SLC35A2_000013 1/10563 1/6728 0/3835
1 c.1063G>A r.(?) p.(Ala355Thr) g.48762123C>T Copied from the Exome Variant Server SLC35A2_000012 1/10563 1/6728 0/3835
1 c.1068C>T r.(=) p.(=) g.48762118G>A Copied from the Exome Variant Server SLC35A2_000011 2/10563 1/6728 1/3835
1 c.1064_1069del r.(?) p.(Ala355_Ser356del) g.48762117_48762122del Copied from the Exome Variant Server SLC35A2_000010 18/10205 7/6484 11/3721
1 c.1078G>A r.(?) p.(Val360Ile) g.48762108C>T Copied from the Exome Variant Server SLC35A2_000009 11/10563 0/6728 11/3835
1 c.1130G>C r.(?) p.(Arg377Pro) g.48762056C>G Copied from the Exome Variant Server SLC35A2_000008 1/10563 1/6728 0/3835
1 c.1163+39G>C r.(=) p.(=) g.48761984C>G Copied from the Exome Variant Server SLC35A2_000007 1/10563 0/6728 1/3835
1 c.1163+46G>A r.(=) p.(=) g.48761977C>T Copied from the Exome Variant Server SLC35A2_000006 1/10563 1/6728 0/3835
1 c.1163+53G>A r.(=) p.(=) g.48761970C>T Copied from the Exome Variant Server SLC35A2_000005 2/10563 0/6728 2/3835
1 c.1163+91A>G r.(=) p.(=) g.48761932T>C Copied from the Exome Variant Server SLC35A2_000004 1/10559 0/6724 1/3835
1 c.1163+95G>A r.(=) p.(=) g.48761928C>T Copied from the Exome Variant Server SLC35A2_000003 1/10558 0/6723 1/3835
1 c.1164-51G>A r.(=) p.(=) g.48760793C>T Copied from the Exome Variant Server SLC35A2_000002 4203/10561 2745/6727 1458/3834
1 c.*51G>A r.(=) p.(=) g.48760664C>T Copied from the Exome Variant Server SLC35A2_000001 1/10561 0/6726 1/3835
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