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TGGCAGCCGCTTTAGCTTTGCTCGC[G/T]TGGCTTGCTCGAACGGCAGTTTCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
HEATR5B 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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HEATR5B - HEAT repeat containing 5B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_019024.2 | 6695 | Missense Mutation | CAA,CAC | Q,H 2043 | NP_061897.1 | |
XM_006712034.2 | 6695 | Missense Mutation | CAA,CAC | Q,H 2042 | XP_006712097.1 | |
XM_006712035.3 | 6695 | Missense Mutation | CAA,CAC | Q,H 2031 | XP_006712098.1 | |
XM_011532934.2 | 6695 | Missense Mutation | CAA,CAC | Q,H 2043 | XP_011531236.1 | |
XM_011532935.2 | 6695 | Missense Mutation | CAA,CAC | Q,H 1426 | XP_011531237.1 | |
XM_017004378.1 | 6695 | Missense Mutation | CAA,CAC | Q,H 1954 | XP_016859867.1 | |
XM_017004379.1 | 6695 | Missense Mutation | CAA,CAC | Q,H 1918 | XP_016859868.1 | |
XM_017004380.1 | 6695 | Missense Mutation | CAA,CAC | Q,H 1918 | XP_016859869.1 |