Product Details

SNP ID
rs148925155
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50359812 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGAGGGGTGGGATGTAGTGTGCC[A/G]GGTCCGAGCCCCCCAGGACCAGCTC
Phenotype
MIM: 605631
Polymorphism
A/G, Transition 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 1254 Missense Mutation CCG,CTG P240L NP_004842.1
XM_011527540.1 1254 Missense Mutation CCG,CTG P240L XP_011525842.1
XM_017027512.1 1254 Missense Mutation CCG,CTG P231L XP_016883001.1

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