Product Details

SNP ID
rs28364375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:42360717 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTCACCTCATAAGTGAGGAGTCA[A/G]GGCACACTAGAGTGAAATATATCTA
Phenotype
MIM: 114240 MIM: 104180
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CAPN3 PubMed Links

Gene Details

Gene
CAPN3
Gene Name
calpain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000070.2 Intron NP_000061.1
NM_024344.1 Intron NP_077320.1
NM_173087.1 Intron NP_775110.1
NM_173088.1 Intron NP_775111.1
NM_173089.1 Intron NP_775112.1
NM_173090.1 Intron NP_775113.1
Gene
GANC
Gene Name
glucosidase alpha, neutral C
There are no transcripts associated with this gene.

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