Product Details

SNP ID

rs59152409

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44304914 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGAGGCACTGTTCCTTTAGAGAC[A/G]GCGTTGCTTGCTCAAGTGGAGAAGC

Phenotype

MIM: 607358 MIM: 171860

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

AIRE PubMed Links

Additional Information

For this assay, SNP(s) [rs201544793] 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

AIRE

Gene Name

autoimmune regulator

There are no transcripts associated with this gene.

Gene

PFKL

Gene Name

phosphofructokinase, liver type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002021.2		Intron			NP_001002021.2
NM_002626.5		Intron			NP_002617.3
XM_005261135.3		Intron			XP_005261192.1
XM_005261137.4		Intron			XP_005261194.1
XM_006724011.1		Intron			XP_006724074.1
XM_006724012.1		Intron			XP_006724075.1
XM_011529603.2		Intron			XP_011527905.1
XM_017028368.1		Intron			XP_016883857.1
XM_017028369.1		Intron			XP_016883858.1
XM_017028370.1		Intron			XP_016883859.1
XM_017028371.1		Intron			XP_016883860.1
XM_017028372.1		Intron			XP_016883861.1

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