Product Details

SNP ID

rs200327001

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:19504881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAATAAAAAACCTTCCAACTTAC[A/G]GGGATACAAAATCCTTTTGCATGAG

Phenotype

MIM: 605943

Polymorphism

A/G, Transition 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	1012	Missense Mutation	CCG,CTG	P173L	NP_001310995.1
NM_001324067.1	1012	Missense Mutation	CCG,CTG	P252L	NP_001310996.1
NM_016641.3	1012	Missense Mutation	CCG,CTG	P283L	NP_057725.1

Gene

TMC5

Gene Name

transmembrane channel like 5

There are no transcripts associated with this gene.

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