Product Details

SNP ID
rs140030379
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:33237833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTTGAATGTGAATCCAGCCCTGC[C/T]CTTGAGTCCCACAGGTCTTGCAGGA
Phenotype
MIM: 607412
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BPIFA1 PubMed Links

Gene Details

Gene
BPIFA1
Gene Name
BPI fold containing family A member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243193.1 192 Missense Mutation CCC,CTC P41L NP_001230122.1
NM_016583.3 192 Missense Mutation CCC,CTC P41L NP_057667.1
NM_130852.2 192 Missense Mutation CCC,CTC P41L NP_570913.1

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