Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 71516045-71516308 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_001130455.1 NM_001130976.1 NM_001130977.1 NM_001130978.1 NM_001130979.1 NM_001130980.1 NM_001130981.1 NM_001130982.1 NM_001130983.1 NM_001130984.1 NM_001130985.1 NM_001130986.1 NM_001130987.1 NM_003494.3 XM_005264584.4 XM_005264585.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
721916 c.823G>T p.G275W Chr.2: 71516210-71516210 on Build GRCh38
1483236 c.926T>G p.L309R Chr.2: 71516217-71516217 on Build GRCh38
4095472 c.847T>A p.F283I Chr.2: 71516234-71516234 on Build GRCh38
1022661 c.846C>G p.I282M Chr.2: 71516233-71516233 on Build GRCh38
4095468 c.793A>G p.T265A Chr.2: 71516180-71516180 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs551384644 Chr.2: 71516233-71516233 on Build GRCh38
rs370936168 Chr.2: 71516262-71516262 on Build GRCh38
rs774059957 Chr.2: 71516193-71516193 on Build GRCh38
rs147675576 Chr.2: 71516236-71516236 on Build GRCh38
rs115184725 Chr.2: 71516146-71516146 on Build GRCh38
rs111581279 Chr.2: 71516227-71516227 on Build GRCh38
rs529400653 Chr.2: 71516207-71516207 on Build GRCh38
rs750376064 Chr.2: 71516282-71516282 on Build GRCh38
rs201128463 Chr.2: 71516153-71516153 on Build GRCh38
rs11903960 Chr.2: 71516246-71516246 on Build GRCh38
rs988491095 Chr.2: 71516183-71516183 on Build GRCh38
rs533297432 Chr.2: 71516126-71516127 on Build GRCh38
rs139753518 Chr.2: 71516143-71516143 on Build GRCh38
rs1004869329 Chr.2: 71516128-71516128 on Build GRCh38
rs934428561 Chr.2: 71516178-71516178 on Build GRCh38
rs372952394 Chr.2: 71516241-71516241 on Build GRCh38
rs13417592 Chr.2: 71516076-71516076 on Build GRCh38
rs893232964 Chr.2: 71516104-71516104 on Build GRCh38
rs74384941 Chr.2: 71516281-71516281 on Build GRCh38
rs975366663 Chr.2: 71516151-71516151 on Build GRCh38
rs771253287 Chr.2: 71516242-71516242 on Build GRCh38
rs374114774 Chr.2: 71516287-71516287 on Build GRCh38
rs889590190 Chr.2: 71516127-71516127 on Build GRCh38
rs765338016 Chr.2: 71516134-71516134 on Build GRCh38
rs916319528 Chr.2: 71516197-71516197 on Build GRCh38
rs768207094 Chr.2: 71516187-71516187 on Build GRCh38
rs755059821 Chr.2: 71516131-71516131 on Build GRCh38
rs1002728050 Chr.2: 71516099-71516099 on Build GRCh38
rs954851578 Chr.2: 71516154-71516154 on Build GRCh38
rs865798392 Chr.2: 71516191-71516191 on Build GRCh38
rs934694477 Chr.2: 71516069-71516069 on Build GRCh38
rs377156563 Chr.2: 71516155-71516155 on Build GRCh38
rs786200898 Chr.2: 71516243-71516243 on Build GRCh38
rs369502694 Chr.2: 71516149-71516149 on Build GRCh38
rs114384446 Chr.2: 71516271-71516271 on Build GRCh38
rs886043967 Chr.2: 71516229-71516229 on Build GRCh38
rs886554317 Chr.2: 71516123-71516123 on Build GRCh38
rs752788962 Chr.2: 71516270-71516270 on Build GRCh38
rs886042590 Chr.2: 71516244-71516244 on Build GRCh38
rs759746992 Chr.2: 71516247-71516247 on Build GRCh38
rs751491934 Chr.2: 71516140-71516140 on Build GRCh38
rs912300172 Chr.2: 71516173-71516173 on Build GRCh38
rs187954641 Chr.2: 71516111-71516111 on Build GRCh38
rs753807885 Chr.2: 71516129-71516129 on Build GRCh38
rs200969236 Chr.2: 71516274-71516274 on Build GRCh38
rs772708040 Chr.2: 71516224-71516224 on Build GRCh38
rs532691220 Chr.2: 71516232-71516232 on Build GRCh38
rs370223980 Chr.2: 71516174-71516174 on Build GRCh38
rs748604967 Chr.2: 71516203-71516203 on Build GRCh38
rs905658646 Chr.2: 71516092-71516092 on Build GRCh38
rs398123806 Chr.2: 71516184-71516184 on Build GRCh38
rs28500662 Chr.2: 71516112-71516112 on Build GRCh38

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