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TGGCAAACCCCTGAGCGGGCTGCTG[A/C]ATGCGCTGGCCCAGGACACTTTCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607238 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COMMD1 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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COMMD1 - copper metabolism domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321781.1 | 84 | Intron | NP_001308710.1 | |||
NM_001321782.1 | 84 | Intron | NP_001308711.1 | |||
NM_152516.3 | 84 | Missense Mutation | AAT,CAT | N,H 17 | NP_689729.1 | |
XM_011532558.2 | 84 | Missense Mutation | AAT,CAT | N,H 17 | XP_011530860.1 | |
XM_011532559.2 | 84 | Intron | XP_011530861.1 | |||
XM_017003412.1 | 84 | Intron | XP_016858901.1 |