Product Details

SNP ID
rs139306246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238170549 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCGCCACCCCTCAGTGCCCTATC[C/T]GCACCACCATCACAGTGACGTTGTC
Phenotype
MIM: 615099
Polymorphism
C/T, 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 1156 Missense Mutation CAG,CGG Q389R NP_110395.1
XM_005246106.1 1156 Missense Mutation CAG,CGG Q269R XP_005246163.1
XM_006712784.1 1156 Missense Mutation CAG,CGG Q321R XP_006712847.1
XM_011511946.2 1156 Missense Mutation CAG,CGG Q257R XP_011510248.1
XM_017005056.1 1156 Missense Mutation CAG,CGG Q269R XP_016860545.1
XM_017005057.1 1156 Missense Mutation CAG,CGG Q269R XP_016860546.1
XM_017005058.1 1156 Missense Mutation CAG,CGG Q257R XP_016860547.1

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