Product Details

SNP ID
rs182226726
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:230747548 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCAGGCACACCCGGTTCCCAAG[A/G]ACGCCCGGATCACCCACTCCTCAGG
Phenotype
MIM: 606401
Polymorphism
A/G, 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_001319676.1 149 Missense Mutation AAC,GAC N18D NP_001306605.1
NM_006615.2 149 Missense Mutation AAC,GAC N18D NP_006606.1
NM_016452.2 149 Missense Mutation AAC,GAC N18D NP_057536.1
XM_011544017.1 149 Missense Mutation AAC,GAC N18D XP_011542319.1
XM_011544018.1 149 Missense Mutation AAC,GAC N18D XP_011542320.1
XM_011544019.2 149 Missense Mutation AAC,GAC N18D XP_011542321.1
XM_011544020.1 149 Intron XP_011542322.1
XM_017000098.1 149 Missense Mutation AAC,GAC N18D XP_016855587.1
XM_017000099.1 149 Intron XP_016855588.1

View Full Product Details