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AGCAGCCTGTACAGAGGCGGCGTCC[C/T]GCCCATGCTCCAGCAGCTCCTGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C3orf18 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C3orf18 - chromosome 3 open reading frame 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171740.2 | 925 | Missense Mutation | CAG,CGG | Q,R 119 | NP_001165211.1 | |
NM_001171741.2 | 925 | Missense Mutation | CAG,CGG | Q,R 119 | NP_001165212.1 | |
NM_001171743.2 | 925 | Missense Mutation | CAG,CGG | Q,R 99 | NP_001165214.2 | |
NM_016210.4 | 925 | Missense Mutation | CAG,CGG | Q,R 119 | NP_057294.2 | |
XM_011533781.2 | 925 | Missense Mutation | CAG,CGG | Q,R 193 | XP_011532083.1 | |
XM_011533782.2 | 925 | Missense Mutation | CAG,CGG | Q,R 123 | XP_011532084.1 | |
XM_011533783.2 | 925 | Missense Mutation | CAG,CGG | Q,R 123 | XP_011532085.1 | |
XM_011533784.2 | 925 | Missense Mutation | CAG,CGG | Q,R 123 | XP_011532086.1 | |
XM_011533785.2 | 925 | Missense Mutation | CAG,CGG | Q,R 123 | XP_011532087.1 | |
XM_011533788.1 | 925 | UTR 5 | XP_011532090.1 | |||
XM_011533789.1 | 925 | Intron | XP_011532091.1 | |||
XM_011533790.1 | 925 | Missense Mutation | CAG,CGG | Q,R 99 | XP_011532092.1 | |
XM_017006545.1 | 925 | Intron | XP_016862034.1 | |||
XM_017006546.1 | 925 | Intron | XP_016862035.1 | |||
XM_017006547.1 | 925 | Missense Mutation | CAG,CGG | Q,R 99 | XP_016862036.1 |
HEMK1 - HemK methyltransferase family member 1 | ||||||
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There are no transcripts associated with this gene. |