Product Details

SNP ID
rs147028490
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:15466091 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTCTGCCTGGTGGGGCAGCAGC[A/G]TGAAAACCAGTATGATCTGTGCTGG
Phenotype
MIM: 609443
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CELA2A PubMed Links

Gene Details

Gene
CELA2A
Gene Name
chymotrypsin like elastase family member 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033440.2 612 Missense Mutation ATG,GTG M196V NP_254275.1

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