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CGTTGTCGGCCGAGCCCCGCTGCAC[C/T]GCCTTGTTGGCCAGCCTGTTGCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615099 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERFE PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ERFE - erythroferrone | ||||||
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There are no transcripts associated with this gene. |
ILKAP - ILK associated serine/threonine phosphatase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030768.2 | 1112 | Silent Mutation | GCA,GCG | A,A 374 | NP_110395.1 | |
XM_005246106.1 | 1112 | Silent Mutation | GCA,GCG | A,A 254 | XP_005246163.1 | |
XM_006712784.1 | 1112 | Silent Mutation | GCA,GCG | A,A 306 | XP_006712847.1 | |
XM_011511946.2 | 1112 | Silent Mutation | GCA,GCG | A,A 242 | XP_011510248.1 | |
XM_017005056.1 | 1112 | Silent Mutation | GCA,GCG | A,A 254 | XP_016860545.1 | |
XM_017005057.1 | 1112 | Silent Mutation | GCA,GCG | A,A 254 | XP_016860546.1 | |
XM_017005058.1 | 1112 | Silent Mutation | GCA,GCG | A,A 242 | XP_016860547.1 |