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GACAGATAGGCTTTCACTGAGATCC[A/G]ATGTCATGAAGTCTTCAAGACAGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C22orf42 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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C22orf42 - chromosome 22 open reading frame 42 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010859.1 | 1001 | Missense Mutation | TCG,TTG | S,L 184 | NP_001010859.1 | |
XM_011529922.2 | 1001 | Intron | XP_011528224.1 | |||
XM_017028629.1 | 1001 | Intron | XP_016884118.1 | |||
XM_017028630.1 | 1001 | Missense Mutation | TCG,TTG | S,L 167 | XP_016884119.1 | |
XM_017028631.1 | 1001 | UTR 3 | XP_016884120.1 | |||
XM_017028632.1 | 1001 | Intron | XP_016884121.1 |