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TGTCAATTCCTTCTCAGAACTGCTC[C/T]AAAAGACTCCTGTCATCCAGCTTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614459 | ||||||||||||||||||||
Literature Links: |
CYB561A3 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 |
CYB561A3 - cytochrome b561 family member A3 | ||||||
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There are no transcripts associated with this gene. |
TMEM138 - transmembrane protein 138 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016464.4 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | NP_057548.1 | |
XM_006718585.3 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_006718648.1 | |
XM_006718586.2 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_006718649.1 | |
XM_006718588.3 | 293 | Intron | XP_006718651.1 | |||
XM_011545098.2 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_011543400.1 | |
XM_011545099.1 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_011543401.1 | |
XM_011545100.1 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_011543402.1 | |
XM_017017917.1 | 293 | Nonsense Mutation | CAA,TAA | Q,* 32 | XP_016873406.1 |