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GGTCGGCTCCATGGCCAGCGCAGCC[A/T]GAAGCTCAGCTGAGAGAGGGGCCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608508 MIM: 603236 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYBA 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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CYBA - cytochrome b-245 alpha chain | ||||||
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There are no transcripts associated with this gene. |
MVD - mevalonate diphosphate decarboxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002461.2 | 1239 | Missense Mutation | CAG,CTG | Q,L 355 | NP_002452.1 | |
XM_011523086.2 | 1239 | Missense Mutation | CAG,CTG | Q,L 389 | XP_011521388.1 | |
XM_011523087.2 | 1239 | Missense Mutation | CAG,CTG | Q,L 368 | XP_011521389.1 | |
XM_011523088.2 | 1239 | Missense Mutation | CAG,CTG | Q,L 334 | XP_011521390.1 | |
XM_011523089.2 | 1239 | Missense Mutation | CAG,CTG | Q,L 238 | XP_011521391.1 |