Product Details

SNP ID
rs4479748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:184091245 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTGGGCCAGACAGGCGGGGCAGTGC[C/T]GGCGCGGCCCTTCAGCATGCACATC
Phenotype
MIM: 616983
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ENPP6 PubMed Links

Gene Details

Gene
ENPP6
Gene Name
ectonucleotide pyrophosphatase/phosphodiesterase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153343.3 1397 Missense Mutation AGC,GGC S419G NP_699174.1

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