Product Details

SNP ID
rs147790644
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:130380572 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTTGGGGGCTGTCTTTGGCAAG[A/G]AGGACTTTGTGGGGTAGGGATGTGG
Phenotype
MIM: 114850
Polymorphism
A/G, 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_001868.3 202 Missense Mutation AAG,GAG K18E NP_001859.1

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