Product Details

SNP ID
rs520950
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:182795957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAACAGTCTTGTTTGTTCATCA[G/T]GGACCCACGGACAATGTCAGTGTGT
Phenotype
MIM: 611412
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NPL PubMed Links

Gene Details

Gene
NPL
Gene Name
N-acetylneuraminate pyruvate lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001200050.1 Intron NP_001186979.1
NM_001200051.1 Intron NP_001186980.1
NM_001200052.1 Intron NP_001186981.1
NM_001200056.1 Intron NP_001186985.1
NM_030769.2 Intron NP_110396.1

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