Product Details

SNP ID

rs200828998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:177393028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGCCACTCCCGCCGCGCAGGAGT[C/T]GGGCACCATCCCAAAGAAGCGGTGA

Phenotype

MIM: 603051

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AGPS PubMed Links

Gene Details

Gene

AGPS

Gene Name

alkylglycerone phosphate synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003659.3	286	Missense Mutation	TCG,TTG	S80L	NP_003650.1
XM_011512041.2	286	Intron			XP_011510343.1
XM_011512042.1	286	Intron			XP_011510344.1
XM_011512043.2	286	Intron			XP_011510345.1

Gene

LOC100130691

Gene Name

uncharacterized LOC100130691

There are no transcripts associated with this gene.

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