Product Details

SNP ID
rs142674245
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15217471 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGAAGTCAAAACATCAGTTGGA[C/T]TTAGAGCGTGCTCATTTCCTTGTTA
Phenotype
MIM: 606400
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CAPN7 PubMed Links

Gene Details

Gene
CAPN7
Gene Name
calpain 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014296.2 567 Silent Mutation GAC,GAT D86D NP_055111.1
XM_011533555.2 567 Silent Mutation GAC,GAT D86D XP_011531857.1
XM_011533556.2 567 Silent Mutation GAC,GAT D42D XP_011531858.1
XM_011533557.2 567 Silent Mutation GAC,GAT D86D XP_011531859.1
XM_017006043.1 567 Silent Mutation GAC,GAT D42D XP_016861532.1
XM_017006044.1 567 Silent Mutation GAC,GAT D86D XP_016861533.1
XM_017006045.1 567 Silent Mutation GAC,GAT D42D XP_016861534.1

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