Product Details

SNP ID
rs180931942
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:93310598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCCCTTCCCGGCTGGCCTCTCGT[C/T]GGCCTCCTTCTCGTTGAGGATTTCC
Phenotype
MIM: 604603
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYOF PubMed Links

Gene Details

Gene
MYOF
Gene Name
myoferlin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013451.3 6058 Missense Mutation AAC,GAC N1979D NP_038479.1
NM_133337.2 6058 Missense Mutation AAC,GAC N1966D NP_579899.1
XM_005269693.4 6058 Missense Mutation AAC,GAC N1998D XP_005269750.1
XM_005269694.4 6058 Missense Mutation AAC,GAC N1985D XP_005269751.1
XM_011539632.2 6058 Missense Mutation AAC,GAC N1980D XP_011537934.1
XM_017016068.1 6058 Missense Mutation AAC,GAC N1856D XP_016871557.1
XM_017016069.1 6058 Missense Mutation AAC,GAC N1856D XP_016871558.1
XM_017016070.1 6058 Intron XP_016871559.1

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