Product Details

SNP ID
rs140920201
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238170540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGGCCGCGCGCCACCCCTCAG[A/T]GCCCTATCCGCACCACCATCACAGT
Phenotype
MIM: 615099
Polymorphism
A/T, Transversion 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 1165 Missense Mutation CAC,CTC H392L NP_110395.1
XM_005246106.1 1165 Missense Mutation CAC,CTC H272L XP_005246163.1
XM_006712784.1 1165 Missense Mutation CAC,CTC H324L XP_006712847.1
XM_011511946.2 1165 Missense Mutation CAC,CTC H260L XP_011510248.1
XM_017005056.1 1165 Missense Mutation CAC,CTC H272L XP_016860545.1
XM_017005057.1 1165 Missense Mutation CAC,CTC H272L XP_016860546.1
XM_017005058.1 1165 Missense Mutation CAC,CTC H260L XP_016860547.1

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