Product Details

SNP ID
rs148576400
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:19507722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTCTGGCAAGAAAGAACAGACCA[A/C]ACTATTATTATACAGTTGAGGAAAT
Phenotype
MIM: 605943
Polymorphism
A/C, 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_001324066.1 765 Missense Mutation GTG,TTG V91L NP_001310995.1
NM_001324067.1 765 Intron NP_001310996.1
NM_016641.3 765 Missense Mutation GTG,TTG V201L NP_057725.1
Gene
TMC5
Gene Name
transmembrane channel like 5
There are no transcripts associated with this gene.

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