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TCCTTCAAGTTTATGAAACAGGCGA[C/T]GGATCTTTATTAAACTGGCCAGCAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ERICH6 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 - 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 |
ERICH6 - glutamate rich 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308234.1 | 2247 | Missense Mutation | CAT,CGT | H,R 458 | NP_001295163.1 | |
NM_152394.4 | 2247 | Missense Mutation | CAT,CGT | H,R 604 | NP_689607.2 | |
XM_005247120.3 | 2247 | UTR 3 | XP_005247177.1 |