Product Details

SNP ID

rs141372239

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32167354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGTCTCCTTTGTCCCTAGTTCG[A/G]GAGGCGGAAAAAGATGAGCGCGCTC

Phenotype

MIM: 603099 MIM: 609897 MIM: 603298

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

AGPAT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs200251510] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

AGPAT1

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006411.3	687	Intron			NP_006402.1
NM_032741.4	687	Intron			NP_116130.2
XM_005248805.3	687	Intron			XP_005248862.1
XM_005248806.2	687	Intron			XP_005248863.1
XM_011514234.1	687	Intron			XP_011512536.1

Gene

EGFL8

Gene Name

EGF like domain multiple 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030652.3	687	Silent Mutation	CGA,CGG	R202R	NP_085155.1

Gene

MIR6721

Gene Name

microRNA 6721

There are no transcripts associated with this gene.

Gene

PPT2

Gene Name

palmitoyl-protein thioesterase 2

There are no transcripts associated with this gene.

Gene

PPT2-EGFL8

Gene Name

PPT2-EGFL8 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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