Product Details

SNP ID
rs1972269
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.21:44305641 on Build GRCh38
Set Membership
Validated
Context Sequence [VIC/FAM]
TCAGAAGGGGACCCTGGCCGCTGGC[A/G]TGGGTTTCCTCCTCTCTGAAGATTA
Phenotype
MIM: 607358 MIM: 171860
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
AIRE PubMed Links

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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