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TTCCATGTGGGGGTGGCAGGGCCCC[C/T]AGTGCTGGTTTCTGACAGGGTACCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CALCOCO1 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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CALCOCO1 - calcium binding and coiled-coil domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143682.1 | 2237 | Missense Mutation | AGG,GGG | R,G 561 | NP_001137154.1 | |
NM_020898.2 | 2237 | Missense Mutation | AGG,GGG | R,G 646 | NP_065949.1 | |
XM_011538601.1 | 2237 | Missense Mutation | AGG,GGG | R,G 670 | XP_011536903.1 | |
XM_011538602.1 | 2237 | Missense Mutation | AGG,GGG | R,G 670 | XP_011536904.1 | |
XM_011538603.1 | 2237 | Missense Mutation | AGG,GGG | R,G 670 | XP_011536905.1 | |
XM_011538604.1 | 2237 | Missense Mutation | AGG,GGG | R,G 670 | XP_011536906.1 | |
XM_017019707.1 | 2237 | Missense Mutation | AGG,GGG | R,G 646 | XP_016875196.1 | |
XM_017019708.1 | 2237 | Missense Mutation | AGG,GGG | R,G 347 | XP_016875197.1 | |
XM_017019709.1 | 2237 | Missense Mutation | AGG,GGG | R,G 323 | XP_016875198.1 |