Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 71453860-71454362 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
DYSF
Entrez Gene ID
8291
Gene Name
dysferlin
Gene Aliases
FER1L1, LGMD2B, MMD1
UniGene
Hs.252180
Gene Chromosome Location
Chr.2: 71453155-71686763 on Build GRCh38
Transcripts
NM_001130976.1 NM_001130977.1 NM_001130978.1 NM_001130979.1 NM_001130980.1 NM_001130981.1 NM_003494.3 XM_005264585.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6509457 c.45C>A p.P15P Chr.2: 71454043-71454043 on Build GRCh38
6528336 c.78G>C p.A26A Chr.2: 71454076-71454076 on Build GRCh38
4679872 c.77C>T p.A26V Chr.2: 71454075-71454075 on Build GRCh38
1690685 c.34G>A p.V12I Chr.2: 71454032-71454032 on Build GRCh38
5770672 c.4C>T p.L2L Chr.2: 71454002-71454002 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs554221479 Chr.2: 71453889-71453889 on Build GRCh38
rs887165313 Chr.2: 71454023-71454023 on Build GRCh38
rs939132018 Chr.2: 71453989-71453989 on Build GRCh38
rs755484132 Chr.2: 71454041-71454041 on Build GRCh38
rs977537250 Chr.2: 71454136-71454136 on Build GRCh38
rs565292811 Chr.2: 71453910-71453910 on Build GRCh38
rs753747698 Chr.2: 71454090-71454090 on Build GRCh38
rs200245304 Chr.2: 71454254-71454255 on Build GRCh38
rs560184152 Chr.2: 71454155-71454155 on Build GRCh38
rs1055588392 Chr.2: 71454123-71454123 on Build GRCh38
rs771817914 Chr.2: 71453986-71453986 on Build GRCh38
rs561178882 Chr.2: 71454217-71454217 on Build GRCh38
rs778811292 Chr.2: 71453980-71453980 on Build GRCh38
rs944725373 Chr.2: 71454234-71454234 on Build GRCh38
rs199569685 Chr.2: 71453955-71453955 on Build GRCh38
rs779302875 Chr.2: 71454110-71454110 on Build GRCh38
rs534333842 Chr.2: 71454321-71454321 on Build GRCh38
rs1031426246 Chr.2: 71454127-71454127 on Build GRCh38
rs1024419612 Chr.2: 71454107-71454107 on Build GRCh38
rs930441688 Chr.2: 71454301-71454301 on Build GRCh38
rs956840648 Chr.2: 71454138-71454138 on Build GRCh38
rs767846660 Chr.2: 71453926-71453926 on Build GRCh38
rs989661023 Chr.2: 71453928-71453928 on Build GRCh38
rs566180152 Chr.2: 71453895-71453895 on Build GRCh38
rs576699922 Chr.2: 71454026-71454026 on Build GRCh38
rs751600627 Chr.2: 71454066-71454066 on Build GRCh38
rs536847390 Chr.2: 71453941-71453941 on Build GRCh38
rs747986054 Chr.2: 71454106-71454106 on Build GRCh38
rs919364082 Chr.2: 71454275-71454275 on Build GRCh38
rs375772222 Chr.2: 71454073-71454073 on Build GRCh38
rs758686196 Chr.2: 71453949-71453949 on Build GRCh38
rs542800278 Chr.2: 71454194-71454194 on Build GRCh38
rs576288696 Chr.2: 71453957-71453957 on Build GRCh38
rs760168438 Chr.2: 71454031-71454031 on Build GRCh38
rs777596291 Chr.2: 71454108-71454108 on Build GRCh38
rs749033243 Chr.2: 71453963-71453963 on Build GRCh38
rs763030202 Chr.2: 71454049-71454049 on Build GRCh38
rs1047034836 Chr.2: 71454277-71454277 on Build GRCh38
rs969044218 Chr.2: 71454201-71454201 on Build GRCh38
rs555711336 Chr.2: 71454098-71454098 on Build GRCh38
rs1017462889 Chr.2: 71454040-71454040 on Build GRCh38
rs760262472 Chr.2: 71454009-71454009 on Build GRCh38
rs577545454 Chr.2: 71454122-71454122 on Build GRCh38
rs758605595 Chr.2: 71454311-71454311 on Build GRCh38
rs192358316 Chr.2: 71453965-71453965 on Build GRCh38
rs957801474 Chr.2: 71454163-71454163 on Build GRCh38
rs747753733 Chr.2: 71453982-71453982 on Build GRCh38
rs939266094 Chr.2: 71454238-71454238 on Build GRCh38
rs886043856 Chr.2: 71454006-71454006 on Build GRCh38
rs140603487 Chr.2: 71454044-71454044 on Build GRCh38
rs944818872 Chr.2: 71453914-71453914 on Build GRCh38
rs1050409068 Chr.2: 71453882-71453882 on Build GRCh38
rs980442639 Chr.2: 71454202-71454202 on Build GRCh38
rs1005614411 Chr.2: 71454037-71454037 on Build GRCh38
rs184949469 Chr.2: 71454124-71454124 on Build GRCh38
rs767637508 Chr.2: 71454086-71454086 on Build GRCh38
rs866608649 Chr.2: 71454252-71454253 on Build GRCh38
rs764383398 Chr.2: 71454063-71454063 on Build GRCh38
rs771520271 Chr.2: 71454025-71454025 on Build GRCh38
rs779998277 Chr.2: 71453962-71453962 on Build GRCh38
rs772536111 Chr.2: 71454002-71454002 on Build GRCh38
rs139569636 Chr.2: 71454167-71454167 on Build GRCh38
rs989625515 Chr.2: 71454147-71454147 on Build GRCh38
rs1048950750 Chr.2: 71454320-71454320 on Build GRCh38
rs775652518 Chr.2: 71454137-71454137 on Build GRCh38

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