Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGTCGGCTGCGGACTTCCCTTCCC[A/G]GGTCTGGATCTTTTCATCCTACCAG
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1047 | Missense Mutation | CGG,TGG | R,W 353 | NP_110395.1 | |
XM_005246106.1 | 1047 | Missense Mutation | CGG,TGG | R,W 233 | XP_005246163.1 | |
XM_006712784.1 | 1047 | Missense Mutation | CGG,TGG | R,W 285 | XP_006712847.1 | |
XM_011511946.2 | 1047 | Missense Mutation | CGG,TGG | R,W 221 | XP_011510248.1 | |
XM_017005056.1 | 1047 | Missense Mutation | CGG,TGG | R,W 233 | XP_016860545.1 | |
XM_017005057.1 | 1047 | Missense Mutation | CGG,TGG | R,W 233 | XP_016860546.1 | |
XM_017005058.1 | 1047 | Missense Mutation | CGG,TGG | R,W 221 | XP_016860547.1 |