Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGCACGGCTTACCCACGATCCTTC[A/G]GAGGTAAAGCGGTCGCTTATGTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 601066 MIM: 603593 | ||||||||||||||||||||||||||||||||
Literature Links: |
OXA1L PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian
|
CEPH (CEU) - Not Available | |||
EAS - Not Available | African American
|
YRI (Yoruba) - Not Available | |||
SAS - Not Available | Japanese
|
CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Chinese
|
JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
OXA1L - OXA1L, mitochondrial inner membrane protein | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SLC7A7 - solute carrier family 7 member 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126105.2 | 1659 | Nonsense Mutation | CGA,TGA | R,* 473 | NP_001119577.1 | |
NM_001126106.2 | 1659 | Nonsense Mutation | CGA,TGA | R,* 473 | NP_001119578.1 | |
XM_006720302.1 | 1659 | Nonsense Mutation | CGA,TGA | R,* 473 | XP_006720365.1 | |
XM_011537298.2 | 1659 | Nonsense Mutation | CGA,TGA | R,* 473 | XP_011535600.1 | |
XM_011537299.1 | 1659 | Nonsense Mutation | CGA,TGA | R,* 473 | XP_011535601.1 |
Set Membership: |
DME Validated Inventoried |