Product Details

SNP ID
rs7582021
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:71461516 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTGGAATGGCCTTGCCCTTTGGCCC[A/G]AGGAAATGAATCTGGGCTTCATCCC
Phenotype
MIM: 603009
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DYSF PubMed Links

Gene Details

Gene
DYSF
Gene Name
dysferlin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130455.1 Intron NP_001123927.1
NM_001130976.1 Intron NP_001124448.1
NM_001130977.1 Intron NP_001124449.1
NM_001130978.1 Intron NP_001124450.1
NM_001130979.1 Intron NP_001124451.1
NM_001130980.1 Intron NP_001124452.1
NM_001130981.1 Intron NP_001124453.1
NM_001130982.1 Intron NP_001124454.1
NM_001130983.1 Intron NP_001124455.1
NM_001130984.1 Intron NP_001124456.1
NM_001130985.1 Intron NP_001124457.1
NM_001130986.1 Intron NP_001124458.1
NM_001130987.1 Intron NP_001124459.1
NM_003494.3 Intron NP_003485.1
XM_005264584.4 Intron XP_005264641.1
XM_005264585.4 Intron XP_005264642.1

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