Product Details

SNP ID
rs147163880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:19503568 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTTTCATCAAAGGTATTAACAG[G/T]CCAACCAACAACCTGGATTCCTTTA
Phenotype
MIM: 605943
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GDE1 PubMed Links

Gene Details

Gene
GDE1
Gene Name
glycerophosphodiester phosphodiesterase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324066.1 1062 Missense Mutation ACT,CCT T190P NP_001310995.1
NM_001324067.1 1062 Missense Mutation ACT,CCT T269P NP_001310996.1
NM_016641.3 1062 Missense Mutation ACT,CCT T300P NP_057725.1
Gene
TMC5
Gene Name
transmembrane channel like 5
There are no transcripts associated with this gene.

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