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TGCCCCACCCTTGTGCAACCTACCC[C/G]CCCTGCTGAACCACTCTGTCTCCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 608917 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATPAF1 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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ATPAF1 - ATP synthase mitochondrial F1 complex assembly factor 1 | ||||||
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There are no transcripts associated with this gene. |
EFCAB14 - EF-hand calcium binding domain 14 | ||||||
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There are no transcripts associated with this gene. |
EFCAB14-AS1 - EFCAB14 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
TEX38 - testis expressed 38 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145474.3 | 592 | Missense Mutation | CCC,GCC | P,A 164 | NP_001138946.1 | |
NM_001300863.1 | 592 | Missense Mutation | CCC,GCC | P,A 110 | NP_001287792.1 | |
NM_001300864.1 | 592 | Missense Mutation | CCC,GCC | P,A 88 | NP_001287793.1 | |
XM_011541421.2 | 592 | Missense Mutation | CCC,GCC | P,A 165 | XP_011539723.1 |