Product Details

SNP ID
rs142851463
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50358677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGCGGTCGAAGACGGCCACATAC[A/G]TCCCCAAGAAGACGTCACCGAGGAT
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 1674 Missense Mutation ACG,ATG T380M NP_004842.1
XM_011527540.1 1674 Missense Mutation ACG,ATG T380M XP_011525842.1
XM_017027512.1 1674 Missense Mutation ACG,ATG T371M XP_016883001.1

View Full Product Details