Product Details

SNP ID
rs112996264
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50358594 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGCGCAGTCTCTCCCCATCCGA[C/G]GTCCGCTCCGCGAGTGCGAGCGCGC
Phenotype
MIM: 605631
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NAPSA PubMed Links

Gene Details

Gene
NAPSA
Gene Name
napsin A aspartic peptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004851.2 1757 Missense Mutation CTC,GTC L408V NP_004842.1
XM_011527540.1 1757 Missense Mutation CTC,GTC L408V XP_011525842.1
XM_017027512.1 1757 Missense Mutation CTC,GTC L399V XP_016883001.1

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