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TTCTCTGGCAATCCGTTTCAGTTCA[C/T]CCTGCTTCTTCTTCTCTTCTGCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601519 MIM: 160782 MIM: 180072 | ||||||||||||||||||||
Literature Links: |
ATP5I 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 |
ATP5I - ATP synthase, H+ transporting, mitochondrial Fo complex subunit E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007100.3 | 246 | Missense Mutation | GAT,GGT | D,G 52 | NP_009031.1 |
MFSD7 - major facilitator superfamily domain containing 7 | ||||||
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There are no transcripts associated with this gene. |
MYL5 - myosin light chain 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002477.1 | 246 | Intron | NP_002468.1 | |||
XM_006713886.2 | 246 | Intron | XP_006713949.1 | |||
XM_017008245.1 | 246 | Intron | XP_016863734.1 | |||
XM_017008246.1 | 246 | Intron | XP_016863735.1 | |||
XM_017008247.1 | 246 | Intron | XP_016863736.1 | |||
XM_017008248.1 | 246 | Intron | XP_016863737.1 |
PDE6B - phosphodiesterase 6B | ||||||
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There are no transcripts associated with this gene. |