Product Details

SNP ID
rs114250024
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:116591864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCCCTGAAAATTCTCCCCTGGA[G/T]CCCTGAGAAGATCGGCACCCGCTTC
Phenotype
MIM: 604422
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PNLIPRP1 PubMed Links

Gene Details

Gene
PNLIPRP1
Gene Name
pancreatic lipase related protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303135.1 170 Missense Mutation AGC,ATC S48I NP_001290064.1
NM_006229.3 170 Missense Mutation AGC,ATC S48I NP_006220.1
XM_011539868.1 170 Missense Mutation AGC,ATC S48I XP_011538170.1
XM_011539869.1 170 UTR 5 XP_011538171.1

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