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CAACGCTGGCTGCCGCTGGAGGCCA[A/G]TCCCGAGGTGGGCGCGCTTCGGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612377 MIM: 603090 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COMMD6 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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COMMD6 - COMM domain containing 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287392.1 | 106 | Intron | NP_001274321.1 | |||
NM_001287393.1 | 106 | Intron | NP_001274322.1 | |||
NM_001287394.1 | 106 | Intron | NP_001274323.1 | |||
NM_203495.3 | 106 | Intron | NP_987091.1 | |||
NM_203497.3 | 106 | Intron | NP_987093.1 | |||
XM_011534948.2 | 106 | Intron | XP_011533250.1 |
UCHL3 - ubiquitin C-terminal hydrolase L3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270952.1 | 106 | Intron | NP_001257881.1 | |||
NM_006002.4 | 106 | Missense Mutation | AAT,AGT | N,S 12 | NP_005993.1 | |
XM_011535212.1 | 106 | Missense Mutation | AAT,AGT | N,S 12 | XP_011533514.1 | |
XM_011535213.2 | 106 | Missense Mutation | AAT,AGT | N,S 12 | XP_011533515.1 | |
XM_011535214.2 | 106 | Intron | XP_011533516.1 | |||
XM_017020725.1 | 106 | Missense Mutation | AAT,AGT | N,S 12 | XP_016876214.1 | |
XM_017020726.1 | 106 | Missense Mutation | AAT,AGT | N,S 12 | XP_016876215.1 | |
XM_017020727.1 | 106 | Missense Mutation | AAT,AGT | N,S 12 | XP_016876216.1 |