Unique variants in gene ELOVL5

Information The variants shown are described using the NM_021814.4 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.-249G>T r.(=) p.(=) g.53213855C>A - ELOVL5_000050 rs45536535 0.016 8 516 4943 - - Admin
./. 1 - c.-186G>A r.(=) p.(=) g.53213792C>T - ELOVL5_000049 rs1323343625 0.001938 1 516 8451 1 - Admin
./. 1 - c.-122C>T r.(=) p.(=) g.53213728G>A - ELOVL5_000048 rs114179351 0.012 6 516 9193 - - Admin
./. 1 - c.-9+36C>T r.(=) p.(=) g.53213579G>A - ELOVL5_000047 rs542352491 0.001938 1 516 4491 - - Admin
./. 1 - c.-9+41G>T r.(=) p.(=) g.53213574C>A - ELOVL5_000046 rs766213594 0.001938 1 516 4136 - - Admin
./. 1 - c.-9+49_-9+73del r.(=) p.(=) g.53213542_53213566del - ELOVL5_000045 rs1306965035 0.001938 1 516 8185 1 - Admin
./. 1 - c.-9+82G>A r.(=) p.(=) g.53213533C>T - ELOVL5_000044 rs115303607 0.007843 4 510 2116 - - Admin
./. 1 - c.-8-7T>C r.(=) p.(=) g.53160512A>G - ELOVL5_000043 rs561802634 0.001938 1 516 2152 - - Admin
./. 1 - c.58+57C>A r.(=) p.(=) g.53160383G>T - ELOVL5_000042 rs3736732 0.589 304 516 5604 - - Admin
./. 1 - c.58+96G>A r.(=) p.(=) g.53160344C>T - ELOVL5_000041 rs79425751 0.076 39 516 3920 - - Admin
./. 1 - c.58+1207C>T r.(=) p.(=) g.53159233G>A - ELOVL5_000040 rs9474477 0.007752 4 516 7943 - - Admin
./. 1 - c.58+1285G>A r.(=) p.(=) g.53159155C>T - ELOVL5_000039 rs532905288 0.003876 2 516 8529 - - Admin
./. 1 - c.58+1350C>A r.(=) p.(=) g.53159090G>T - ELOVL5_000038 rs2294857 0.095 49 516 5413 - - Admin
./. 1 - c.172C>T r.(?) p.(Pro58Ser) g.53156648G>A - ELOVL5_000037 rs370976035 0.001938 1 516 7667 - - Admin
./. 1 - c.191T>A r.(?) p.(Ile64Asn) g.53156629A>T - ELOVL5_000036 - 0.001938 1 516 8185 1 - Admin
./. 1 - c.246+110T>G r.(=) p.(=) g.53156464A>C - ELOVL5_000035 rs2294870 0.095 49 516 5981 - - Admin
./. 1 - c.246+112G>A r.(=) p.(=) g.53156462C>T - ELOVL5_000034 rs80236022 0.003876 2 516 5870 - - Admin
./. 1 - c.246+3729A>C r.(=) p.(=) g.53152845T>G - ELOVL5_000033 rs3817960 0.368 190 516 10416 - - Admin
./. 1 - c.246+3816T>C r.(=) p.(=) g.53152758A>G - ELOVL5_000032 rs6907982 0.36 186 516 13520 - - Admin
./. 1 - c.246+3863C>G r.(=) p.(=) g.53152711G>C - ELOVL5_000031 rs139609375 0.001938 1 516 9639 - - Admin
./. 1 - c.246+3891C>T r.(=) p.(=) g.53152683G>A - ELOVL5_000030 rs150583340 0.00969 5 516 9449 - - Admin
./. 1 - c.246+3932C>T r.(=) p.(=) g.53152642G>A - ELOVL5_000029 rs6458913 0.368 190 516 7755 - - Admin
./. 1 - c.247-936A>G r.(=) p.(=) g.53141990T>C - ELOVL5_000028 rs138273029 0.001938 1 516 4460 - - Admin
./. 1 - c.247-898T>G r.(=) p.(=) g.53141952A>C - ELOVL5_000027 rs146352718 0.00969 5 516 4796 - - Admin
./. 1 - c.247-833C>T r.(=) p.(=) g.53141887G>A - ELOVL5_000026 rs529303625 0.003876 2 516 3267 - - Admin
./. 1 - c.247-797C>T r.(=) p.(=) g.53141851G>A - ELOVL5_000025 - 0.001938 1 516 1755 1 - Admin
./. 1 - c.247-150T>G r.(=) p.(=) g.53141204A>C - ELOVL5_000024 rs79258857 0.005859 3 512 1709 - - Admin
./. 1 - c.324+28_324+31del r.(=) p.(=) g.53140946_53140949del - ELOVL5_000023 rs748967618 - - - - - - Admin
./. 1 - c.324+32_324+33insTTA r.(=) p.(=) g.53140944_53140945insTAA - ELOVL5_000022 rs757650836 - - - - - - Admin
./. 1 - c.324+33del r.(=) p.(=) g.53140944del - ELOVL5_000021 rs757650836 - - - - - - Admin
./. 1 - c.324+49A>T r.(=) p.(=) g.53140928T>A - ELOVL5_000020 rs2294864 0.55 262 476 1183 - - Admin
./. 1 - c.325-102C>T r.(=) p.(=) g.53140161G>A - ELOVL5_000019 rs2294862 0.274 124 452 953 - - Admin
./. 1 - c.325-40C>T r.(=) p.(=) g.53140099G>A - ELOVL5_000018 rs143712160 0.005814 3 516 2344 - - Admin
./. 1 - c.496+64C>T r.(=) p.(=) g.53139824G>A - ELOVL5_000017 rs79238688 0.004049 2 494 958 - - Admin
./. 1 - c.497-118C>T r.(=) p.(=) g.53138260G>A - ELOVL5_000016 rs9463895 0.292 126 432 925 - - Admin
./. 1 - c.497-63del r.(=) p.(=) g.53138205del - ELOVL5_000015 rs796240759 0.001938 1 516 5732 - - Admin
./. 1 - c.497-63_497-62del r.(=) p.(=) g.53138204_53138205del - ELOVL5_000014 rs796240759 0.001938 1 516 5732 - - Admin
./. 1 - c.621+52del r.(=) p.(=) g.53137966del - ELOVL5_000013 rs561340155 0.001938 1 516 5732 - - Admin
./. 1 - c.622-193A>C r.(=) p.(=) g.53135718T>G - ELOVL5_000012 rs150393212 0.001938 1 516 5732 - - Admin
./. 1 - c.622-193A>T r.(=) p.(=) g.53135718T>A - ELOVL5_000011 rs150393212 0.001938 1 516 5732 - - Admin
./. 1 - c.622-182_622-181insA r.(=) p.(=) g.53135706_53135707insT - ELOVL5_000010 rs144915177 - - - - - - Admin
./. 1 - c.622-43C>T r.(=) p.(=) g.53135568G>A - ELOVL5_000009 rs111658712 0.003876 2 516 9073 - - Admin
./. 1 - c.622-12C>T r.(=) p.(=) g.53135537G>A - ELOVL5_000008 rs115953222 0.001938 1 516 9087 - - Admin
./. 1 - c.757-97_757-96insAAAAG r.(=) p.(=) g.53134164_53134165insCTTTT - ELOVL5_000007 rs70980834 - - - - - - Admin
./. 1 - c.757-44A>G r.(=) p.(=) g.53134112T>C - ELOVL5_000006 rs200287018 0.001938 1 516 7732 - - Admin
./. 1 - c.757-37_757-36insCTGT r.(=) p.(=) g.53134104_53134105insACAG - ELOVL5_000005 rs3830806 - - - - - - Admin
./. 1 - c.757-10C>A r.(=) p.(=) g.53134078G>T - ELOVL5_000004 rs1342516030 0.001938 1 516 7805 1 - Admin
./. 1 - c.861G>T r.(=) p.(=) g.53133964C>A - ELOVL5_000003 rs41273878 0.016 8 516 6872 - - Admin
./. 1 - c.871G>A r.(?) p.(Val291Met) g.53133954C>T - ELOVL5_000002 rs146646780 0.003876 2 516 6762 - - Admin
./. 1 - c.*77A>G r.(=) p.(=) g.53133848T>C - ELOVL5_000001 rs41273876 0.017 9 516 2699 - - Admin
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