Product Details

SNP ID
rs142248095
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238170658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTCGGCTGCGGACTTCCCTTCCC[A/G]GGTCTGGATCTTTTCATCCTACCAG
Phenotype
MIM: 615099
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ERFE PubMed Links

Gene Details

Gene
ERFE
Gene Name
erythroferrone
There are no transcripts associated with this gene.

Gene
ILKAP
Gene Name
ILK associated serine/threonine phosphatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030768.2 1047 Missense Mutation CGG,TGG R353W NP_110395.1
XM_005246106.1 1047 Missense Mutation CGG,TGG R233W XP_005246163.1
XM_006712784.1 1047 Missense Mutation CGG,TGG R285W XP_006712847.1
XM_011511946.2 1047 Missense Mutation CGG,TGG R221W XP_011510248.1
XM_017005056.1 1047 Missense Mutation CGG,TGG R233W XP_016860545.1
XM_017005057.1 1047 Missense Mutation CGG,TGG R233W XP_016860546.1
XM_017005058.1 1047 Missense Mutation CGG,TGG R221W XP_016860547.1

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