Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGCGGGCGGCAGACCCGGAGCAGC[A/C]TGTGGACTCTCGGGCGCCGCGCAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606829 | ||||||||||||||||||||
Literature Links: |
FXN 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 |
FXN - frataxin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000144.4 | 221 | Missense Mutation | ATG,CTG | M,L 1 | NP_000135.2 | |
NM_001161706.1 | 221 | Missense Mutation | ATG,CTG | M,L 1 | NP_001155178.1 | |
NM_181425.2 | 221 | Missense Mutation | ATG,CTG | M,L 1 | NP_852090.1 |