Product Details

SNP ID

rs3204099

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:177550953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTCTTGAATAACACTATCACGA[A/G]GCATGATTGTGTGTTTTGACATGTT

Phenotype

MIM: 603051

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AGPS PubMed Links

Gene Details

Gene

AGPS

Gene Name

alkylglycerone phosphate synthase

There are no transcripts associated with this gene.

Gene

TTC30B

Gene Name

tetratricopeptide repeat domain 30B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152517.2	1844	Missense Mutation	CCT,CTT	P604L	NP_689730.2

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