Product Details

SNP ID
rs2233550
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:77103310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGCCCGCCAACCTCAAGGCCTC[C/T]GTGGTTTTTAACCAGCTCTGACAGC
Phenotype
MIM: 602537 MIM: 164340
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CAPN5 PubMed Links

Gene Details

Gene
CAPN5
Gene Name
calpain 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004055.4 471 Intron NP_004046.2
XM_011545225.1 471 Intron XP_011543527.1
XM_017018223.1 471 Intron XP_016873712.1
Gene
OMP
Gene Name
olfactory marker protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006189.1 471 Silent Mutation TCC,TCT S157S NP_006180.1

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