Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCATGGTGGTCCGGTAAAGCATTT[A/G]GTCAGGCAGGCCTCGTTTCAGGTAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||
Phenotype: |
MIM: 605771 | |||||||||||||||||||||||
Literature Links: |
COX7A2L PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||
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)
|
|||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
COX7A2L - cytochrome c oxidase subunit 7A2 like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319036.1 | 1027 | Nonsense Mutation | CAA,TAA | Q,* 84 | NP_001305965.1 | |
NM_001319037.1 | 1027 | Intron | NP_001305966.1 | |||
NM_001319038.1 | 1027 | Intron | NP_001305967.1 | |||
NM_001319040.1 | 1027 | Intron | NP_001305969.1 | |||
NM_004718.3 | 1027 | Intron | NP_004709.2 |
Set Membership: |
HapMap |