Product Details

SNP ID

rs3130284

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32172710 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACACAGCACACAGCATATATGGTGA[C/T]TGTGACAGAACACTCACAGCCATAT

Phenotype

MIM: 600214 MIM: 603099 MIM: 609897 MIM: 603298 MIM: 602677

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AGER PubMed Links

Gene Details

Gene

AGER

Gene Name

advanced glycosylation end product-specific receptor

There are no transcripts associated with this gene.

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		Intron			NP_006402.1
NM_032741.4		Intron			NP_116130.2
XM_005248805.3		Intron			XP_005248862.1
XM_005248806.2		Intron			XP_005248863.1
XM_011514234.1		Intron			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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