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GTGGTGGAGAGGAACAGCCAAGTCT[C/T]ACATGTCCGAGGAAGAGGAGACTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603646 MIM: 616753 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COX15 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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COX15 - COX15, cytochrome c oxidase assembly homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320974.1 | 1290 | Intron | NP_001307903.1 | |||
NM_001320975.1 | 1290 | Intron | NP_001307904.1 | |||
NM_001320976.1 | 1290 | Intron | NP_001307905.1 | |||
NM_004376.6 | 1290 | Intron | NP_004367.2 | |||
NM_078470.5 | 1290 | Intron | NP_510870.1 | |||
XM_006717634.3 | 1290 | Intron | XP_006717697.1 | |||
XM_011539298.2 | 1290 | Intron | XP_011537600.1 | |||
XM_017015715.1 | 1290 | Intron | XP_016871204.1 |
ENTPD7 - ectonucleoside triphosphate diphosphohydrolase 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020354.3 | 1290 | Missense Mutation | TCA,TTA | S,L 371 | NP_065087.1 |