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ATATAAGAATCCGGAACTTGATCGA[A/C]TAGCCACTGAAGATGATCTGGTAGA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608506 | |||||||||||||||||||||||
Literature Links: |
MFN1 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 |
MFN1 - mitofusin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033540.2 | 268 | Missense Mutation | ATA,CTA | I,L 48 | NP_284941.2 | |
XM_005247596.3 | 268 | Missense Mutation | ATA,CTA | I,L 48 | XP_005247653.2 | |
XM_011512963.2 | 268 | Intron | XP_011511265.1 |