Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCGGAGGCAACTTTGCCCGGCAGC[A/G]CTACGAAGACCTTGTTCTGAATGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 603646 MIM: 616753 | ||||||||||||||||||||
Literature Links: |
COX15 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) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
COX15 - COX15, cytochrome c oxidase assembly homolog | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320974.1 | 2180 | UTR 3 | NP_001307903.1 | |||
NM_001320975.1 | 2180 | Intron | NP_001307904.1 | |||
NM_001320976.1 | 2180 | Intron | NP_001307905.1 | |||
NM_004376.6 | 2180 | Intron | NP_004367.2 | |||
NM_078470.5 | 2180 | Intron | NP_510870.1 | |||
XM_006717634.3 | 2180 | Intron | XP_006717697.1 | |||
XM_011539298.2 | 2180 | Intron | XP_011537600.1 | |||
XM_017015715.1 | 2180 | UTR 3 | XP_016871204.1 |
ENTPD7 - ectonucleoside triphosphate diphosphohydrolase 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020354.3 | 2180 | Missense Mutation | CAC,CGC | H,R 323 | NP_065087.1 |