Product Details

SNP ID: rs140902522
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:32170192 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGCCTGCACTGCAAGATGGAAGGC[A/G]CCACGTTTGAAGGGCAGCATGGAGC
Phenotype: MIM: 603099 MIM: 609897 MIM: 603298 MIM: 602677
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: AGPAT1 PubMed Links

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	1217	Silent Mutation	GGC,GGT	G193G	NP_006402.1
NM_032741.4	1217	Silent Mutation	GGC,GGT	G193G	NP_116130.2
XM_005248805.3	1217	Silent Mutation	GGC,GGT	G197G	XP_005248862.1
XM_005248806.2	1217	Silent Mutation	GGC,GGT	G193G	XP_005248863.1
XM_011514234.1	1217	Silent Mutation	GGC,GGT	G193G	XP_011512536.1

Gene: EGFL8
Gene Name: EGF like domain multiple 8

There are no transcripts associated with this gene.

Gene: MIR6721
Gene Name: microRNA 6721

There are no transcripts associated with this gene.

Gene: MIR6833
Gene Name: microRNA 6833

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.

Gene: RNF5
Gene Name: ring finger protein 5

There are no transcripts associated with this gene.

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