Product Details

SNP ID
rs76778781
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:230747639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACCCTGTTTGAGGATGCAGACT[C/T]CCCAGCCAGCAATTCCTCCCTGTTC
Phenotype
MIM: 606401
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CAPN9 PubMed Links

Gene Details

Gene
CAPN9
Gene Name
calpain 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319676.1 240 Missense Mutation TCC,TTC S48F NP_001306605.1
NM_006615.2 240 Missense Mutation TCC,TTC S48F NP_006606.1
NM_016452.2 240 Missense Mutation TCC,TTC S48F NP_057536.1
XM_011544017.1 240 Missense Mutation TCC,TTC S48F XP_011542319.1
XM_011544018.1 240 Missense Mutation TCC,TTC S48F XP_011542320.1
XM_011544019.2 240 Missense Mutation TCC,TTC S48F XP_011542321.1
XM_011544020.1 240 Intron XP_011542322.1
XM_017000098.1 240 Missense Mutation TCC,TTC S48F XP_016855587.1
XM_017000099.1 240 Intron XP_016855588.1

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