Product Details

SNP ID
rs141209213
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:130381111 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCTGCCCAGGCATCAGGTGCTC[C/T]GAATCTCTGTAGCCGATGAGGCCCA
Phenotype
MIM: 114850
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CPA1 PubMed Links

Gene Details

Gene
CPA1
Gene Name
carboxypeptidase A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001868.3 229 Nonsense Mutation CGA,TGA R27* NP_001859.1

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