Product Details

SNP ID
rs11555869
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238173616 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTTGTACTGCCCGTCCCCAATGG[A/G]GCGTGACACCTCTAGCACGCCCAAA
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_030768.2 864 Missense Mutation CCC,TCC P292S NP_110395.1
XM_005246106.1 864 Missense Mutation CCC,TCC P172S XP_005246163.1
XM_006712784.1 864 Missense Mutation CCC,TCC P224S XP_006712847.1
XM_011511946.2 864 Missense Mutation CCC,TCC P160S XP_011510248.1
XM_017005056.1 864 Missense Mutation CCC,TCC P172S XP_016860545.1
XM_017005057.1 864 Missense Mutation CCC,TCC P172S XP_016860546.1
XM_017005058.1 864 Missense Mutation CCC,TCC P160S XP_016860547.1

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