Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.2: 71516895-71517186 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
1022662 c.878G>A p.R293K Chr.2: 71517011-71517011 on Build GRCh38
1752646 c.856-1G>A p.? Chr.2: 71516988-71516988 on Build GRCh38
1592397 c.974G>A p.R325K Chr.2: 71517011-71517011 on Build GRCh38
4515115 c.999C>T p.F333F Chr.2: 71517036-71517036 on Build GRCh38
443171 c.875T>C p.L292P Chr.2: 71517008-71517008 on Build GRCh38
View More

SNP Detail

SNP ID Chromosome Location
rs771325384 Chr.2: 71516997-71516997 on Build GRCh38
rs753987509 Chr.2: 71516991-71516991 on Build GRCh38
rs112286757 Chr.2: 71517057-71517057 on Build GRCh38
rs747009076 Chr.2: 71517084-71517084 on Build GRCh38
rs771357626 Chr.2: 71517083-71517083 on Build GRCh38
rs756335217 Chr.2: 71516967-71516967 on Build GRCh38
rs759748502 Chr.2: 71517003-71517003 on Build GRCh38
rs121908963 Chr.2: 71517028-71517028 on Build GRCh38
rs564949517 Chr.2: 71516935-71516935 on Build GRCh38
rs747513056 Chr.2: 71516995-71516995 on Build GRCh38
rs944678848 Chr.2: 71516946-71516946 on Build GRCh38
rs367878277 Chr.2: 71517036-71517036 on Build GRCh38
rs773742883 Chr.2: 71517103-71517103 on Build GRCh38
rs868254368 Chr.2: 71517124-71517124 on Build GRCh38
rs398123808 Chr.2: 71516998-71516998 on Build GRCh38
rs11688242 Chr.2: 71517128-71517128 on Build GRCh38
rs140809078 Chr.2: 71517027-71517027 on Build GRCh38
rs111279933 Chr.2: 71516919-71516919 on Build GRCh38
rs753577400 Chr.2: 71517047-71517047 on Build GRCh38
rs776921154 Chr.2: 71516999-71516999 on Build GRCh38
rs886044386 Chr.2: 71517032-71517032 on Build GRCh38
rs746263554 Chr.2: 71517086-71517086 on Build GRCh38
rs778496697 Chr.2: 71516972-71516972 on Build GRCh38
rs868080649 Chr.2: 71517073-71517073 on Build GRCh38
rs905322985 Chr.2: 71517043-71517043 on Build GRCh38
rs112007817 Chr.2: 71517015-71517015 on Build GRCh38
rs184771575 Chr.2: 71517037-71517037 on Build GRCh38
rs760585799 Chr.2: 71517038-71517038 on Build GRCh38
rs555599178 Chr.2: 71517165-71517165 on Build GRCh38
rs548634243 Chr.2: 71517116-71517116 on Build GRCh38
rs747688530 Chr.2: 71516975-71516975 on Build GRCh38
rs754688393 Chr.2: 71516949-71516949 on Build GRCh38
rs766137790 Chr.2: 71517039-71517039 on Build GRCh38
rs375755423 Chr.2: 71517077-71517077 on Build GRCh38
rs772653237 Chr.2: 71516983-71516983 on Build GRCh38
rs777889370 Chr.2: 71517089-71517089 on Build GRCh38
rs529992457 Chr.2: 71517054-71517054 on Build GRCh38
rs398123807 Chr.2: 71516990-71516990 on Build GRCh38
rs530278138 Chr.2: 71516944-71516945 on Build GRCh38
rs752450312 Chr.2: 71517061-71517061 on Build GRCh38
rs757954559 Chr.2: 71517067-71517067 on Build GRCh38
rs747540377 Chr.2: 71517080-71517080 on Build GRCh38

View Full Product Details