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TCATCTGAGCTACATTCTGATGGGC[C/T]TCCAAGATTCTCGCTGTTATCTAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607746 | ||||||||||||||||||||
Literature Links: |
FERMT2 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 |
FERMT2 - fermitin family member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134999.1 | 1949 | Silent Mutation | GAA,GAG | E,E 548 | NP_001128471.1 | |
NM_001135000.1 | 1949 | Silent Mutation | GAA,GAG | E,E 548 | NP_001128472.1 | |
NM_006832.2 | 1949 | Silent Mutation | GAA,GAG | E,E 541 | NP_006823.1 | |
XM_005267285.2 | 1949 | Silent Mutation | GAA,GAG | E,E 552 | XP_005267342.1 | |
XM_006720008.2 | 1949 | Silent Mutation | GAA,GAG | E,E 567 | XP_006720071.1 | |
XM_006720009.2 | 1949 | Silent Mutation | GAA,GAG | E,E 559 | XP_006720072.1 | |
XM_006720010.2 | 1949 | Silent Mutation | GAA,GAG | E,E 556 | XP_006720073.1 |