Product Details

SNP ID
rs138423240
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238170969 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGAGACAGGACAAGATGAAGTTCA[C/T]GGCTTCTTCTGGGGTAAAGACCTTG
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 1002 Missense Mutation NP_110395.1
XM_005246106.1 1002 Missense Mutation XP_005246163.1
XM_006712784.1 1002 Missense Mutation XP_006712847.1
XM_011511946.2 1002 Missense Mutation XP_011510248.1
XM_017005056.1 1002 Missense Mutation XP_016860545.1
XM_017005057.1 1002 Missense Mutation XP_016860546.1
XM_017005058.1 1002 Missense Mutation XP_016860547.1

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