Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATCGACTTGGCTGGGAGCGACCGC[A/G]GGGCCTCGGCCTTGCAGCTGGAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606153 MIM: 612901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5E PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ATP5E - ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SLMO2-ATP5E - SLMO2-ATP5E readthrough | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TUBB1 - tubulin beta 1 class VI | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030773.3 | 575 | Missense Mutation | AGG,GGG | R,G 38 | NP_110400.1 | |
XM_017028085.1 | 575 | Missense Mutation | AGG,GGG | R,G 16 | XP_016883574.1 |