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TTGCAACTTCTCTCGGACGTTCTCC[A/G]GGGTCAGGGGGAGGCAGGCCAGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
FAM179B 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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FAM179B - family with sequence similarity 179 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308120.1 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | NP_001295049.1 | |
NM_015091.3 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | NP_055906.2 | |
XM_011536571.1 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | XP_011534873.1 | |
XM_017021098.1 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | XP_016876587.1 | |
XM_017021099.1 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | XP_016876588.1 | |
XM_017021100.1 | 694 | Missense Mutation | CAG,CGG | Q,R 164 | XP_016876589.1 |
KLHL28 - kelch like family member 28 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308112.1 | 694 | Intron | NP_001295041.1 | |||
NM_017658.4 | 694 | Intron | NP_060128.2 | |||
XM_005267770.3 | 694 | Intron | XP_005267827.1 | |||
XM_006720174.3 | 694 | Intron | XP_006720237.1 | |||
XM_011536847.2 | 694 | Intron | XP_011535149.1 | |||
XM_011536849.2 | 694 | Intron | XP_011535151.1 | |||
XM_017021378.1 | 694 | Intron | XP_016876867.1 |