Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.2: 71513883-71514108 on Build GRCh38 View in UCSC browser
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
6509458	c.731T>A	p.L244Q	Chr.2: 71513893-71513893 on Build GRCh38
4315034	c.643G>A	p.D215N	Chr.2: 71513901-71513901 on Build GRCh38
1238741	c.746C>T	p.P249L	Chr.2: 71513908-71513908 on Build GRCh38
2997547	c.641_644delCAGA	p.D215fs*11	Chr.2: 71513899-71513902 on Build GRCh38
4315033	c.739G>A	p.D247N	Chr.2: 71513901-71513901 on Build GRCh38
6158594	c.655G>T	p.D219Y	Chr.2: 71513913-71513913 on Build GRCh38
7365749	c.646A>G	p.K216E	Chr.2: 71513904-71513904 on Build GRCh38
3582960	c.655G>A	p.D219N	Chr.2: 71513913-71513913 on Build GRCh38
6158593	c.751G>T	p.D251Y	Chr.2: 71513913-71513913 on Build GRCh38
1238742	c.650C>T	p.P217L	Chr.2: 71513908-71513908 on Build GRCh38
3582959	c.751G>A	p.D251N	Chr.2: 71513913-71513913 on Build GRCh38
6509459	c.635T>A	p.L212Q	Chr.2: 71513893-71513893 on Build GRCh38
2997546	c.737_740delCAGA	p.D247fs*11	Chr.2: 71513899-71513902 on Build GRCh38
7365748	c.742A>G	p.K248E	Chr.2: 71513904-71513904 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs933347192	Chr.2: 71514021-71514021 on Build GRCh38
rs957806692	Chr.2: 71514008-71514008 on Build GRCh38
rs886044472	Chr.2: 71513921-71513921 on Build GRCh38
rs922175149	Chr.2: 71514012-71514012 on Build GRCh38
rs751402861	Chr.2: 71513909-71513909 on Build GRCh38
rs981787051	Chr.2: 71514061-71514061 on Build GRCh38
rs772529049	Chr.2: 71514026-71514026 on Build GRCh38
rs755489450	Chr.2: 71513925-71513925 on Build GRCh38
rs774156496	Chr.2: 71513928-71513928 on Build GRCh38
rs990943889	Chr.2: 71514023-71514023 on Build GRCh38
rs761537567	Chr.2: 71513930-71513930 on Build GRCh38
rs907987075	Chr.2: 71514049-71514049 on Build GRCh38
rs398123800	Chr.2: 71513922-71513922 on Build GRCh38
rs376412076	Chr.2: 71513953-71513953 on Build GRCh38
rs1037943812	Chr.2: 71514064-71514064 on Build GRCh38
rs759964991	Chr.2: 71513971-71513971 on Build GRCh38
rs200198865	Chr.2: 71513931-71513931 on Build GRCh38
rs918495344	Chr.2: 71514071-71514071 on Build GRCh38
rs147876220	Chr.2: 71513908-71513908 on Build GRCh38
rs1051768901	Chr.2: 71514033-71514033 on Build GRCh38
rs760389990	Chr.2: 71513950-71513950 on Build GRCh38
rs753363830	Chr.2: 71513967-71513967 on Build GRCh38
rs949011276	Chr.2: 71514054-71514054 on Build GRCh38
rs765864286	Chr.2: 71513960-71513960 on Build GRCh38
rs749224638	Chr.2: 71513914-71513914 on Build GRCh38
rs566272229	Chr.2: 71513985-71513985 on Build GRCh38
rs886044381	Chr.2: 71513919-71513919 on Build GRCh38
rs568963475	Chr.2: 71513944-71513944 on Build GRCh38
rs377610023	Chr.2: 71513973-71513973 on Build GRCh38
rs79396630	Chr.2: 71513972-71513972 on Build GRCh38
rs567095996	Chr.2: 71514018-71514018 on Build GRCh38

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