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TGCCAGGGCTTCCGATTTAACCACC[C/T]GAAAAATTCCTTGTTCCCTATCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 115500 MIM: 605169 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAT 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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CAT - catalase | ||||||
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There are no transcripts associated with this gene. |
ELF5 - E74 like ETS transcription factor 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243080.1 | 605 | Missense Mutation | CAG,CGG | Q,R 99 | NP_001230009.1 | |
NM_001243081.1 | 605 | Missense Mutation | CAG,CGG | Q,R 126 | NP_001230010.1 | |
NM_001422.3 | 605 | Missense Mutation | CAG,CGG | Q,R 194 | NP_001413.1 | |
NM_198381.1 | 605 | Missense Mutation | CAG,CGG | Q,R 204 | NP_938195.1 | |
XM_017017308.1 | 605 | Missense Mutation | CAG,CGG | Q,R 177 | XP_016872797.1 | |
XM_017017309.1 | 605 | Missense Mutation | CAG,CGG | Q,R 171 | XP_016872798.1 |