Product Details

SNP ID
rs11538794
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50378225 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCGAAGATGCTGGGCCACGAGCT[C/T]TGCCGTGTCTGTGGGGACAAGGCCT
Phenotype
MIM: 605631 MIM: 600380 MIM: 174761
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NAPSA PubMed Links

Gene Details

Gene
NAPSA
Gene Name
napsin A aspartic peptidase
There are no transcripts associated with this gene.

Gene
NR1H2
Gene Name
nuclear receptor subfamily 1 group H member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256647.1 539 Intron NP_001243576.1
NM_007121.5 539 Silent Mutation CTC,CTT L86L NP_009052.3
Gene
POLD1
Gene Name
DAN polymerase delta 1, catalytic subunit
There are no transcripts associated with this gene.

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