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TACAAATATCTGAGAAGGCTTTTCC[A/G]CTTTCGGCAAATGGACTTTGAATTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613920 MIM: 604623 | ||||||||||||||||||||
Literature Links: |
COA5 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
COA5 - cytochrome c oxidase assembly factor 5 | ||||||
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There are no transcripts associated with this gene. |
MGAT4A - mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A | ||||||
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There are no transcripts associated with this gene. |
UNC50 - unc-50 inner nuclear membrane RNA binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_005263913.4 | 281 | Missense Mutation | CAC,CGC | H,R 57 | XP_005263970.1 | |
XM_006712403.3 | 281 | Missense Mutation | CAC,CGC | H,R 57 | XP_006712466.1 | |
XM_006712404.2 | 281 | Missense Mutation | CAC,CGC | H,R 40 | XP_006712467.1 |