Product Details

SNP ID
rs139362320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238170626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCAGCCTGTTGCAGGCTGCTTC[A/G]TAGCGGGCGTCGGCTGCGGACTTCC
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 1079 Silent Mutation TAC,TAT Y363Y NP_110395.1
XM_005246106.1 1079 Silent Mutation TAC,TAT Y243Y XP_005246163.1
XM_006712784.1 1079 Silent Mutation TAC,TAT Y295Y XP_006712847.1
XM_011511946.2 1079 Silent Mutation TAC,TAT Y231Y XP_011510248.1
XM_017005056.1 1079 Silent Mutation TAC,TAT Y243Y XP_016860545.1
XM_017005057.1 1079 Silent Mutation TAC,TAT Y243Y XP_016860546.1
XM_017005058.1 1079 Silent Mutation TAC,TAT Y231Y XP_016860547.1

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