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ATTTGCATTGTCTACTGTCAGAGAA[C/G]AGTCATCCATTCCGAGAGCAGATTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300056 MIM: 300552 | ||||||||||||||||||||
Literature Links: |
HCCS PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
HCCS - holocytochrome c synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122608.2 | 533 | Missense Mutation | CAG,GAG | Q,E 106 | NP_001116080.1 | |
NM_001171991.2 | 533 | Missense Mutation | CAG,GAG | Q,E 106 | NP_001165462.1 | |
NM_005333.4 | 533 | Missense Mutation | CAG,GAG | Q,E 106 | NP_005324.3 |
MID1 - midline 1 | ||||||
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There are no transcripts associated with this gene. |