Product Details

SNP ID
rs147803573
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65183767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGTGAAGTGACTGGGCTGGGCAG[C/G]TATTTCGGCTGGCAGTTTTCCTAGG
Phenotype
MIM: 114220
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAPN1 PubMed Links

Gene Details

Gene
CAPN1
Gene Name
calpain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198868.1 Intron NP_001185797.1
NM_001198869.1 Intron NP_001185798.1
NM_005186.3 Intron NP_005177.2
XM_006718698.1 Intron XP_006718761.1
XM_011545292.1 Intron XP_011543594.1

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