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AGAATGGCTGCTGGGTACCTGCCCC[A/G]CTGGTCCCAGGTGAGATGTCCTCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601117 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
THOP1 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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THOP1 - thimet oligopeptidase 1 | ||||||
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There are no transcripts associated with this gene. |
ZNF554 - zinc finger protein 554 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001102651.1 | 314 | Missense Mutation | CAC,CGC | H,R 39 | NP_001096121.1 | |
XM_006722635.3 | 314 | Intron | XP_006722698.1 | |||
XM_011527660.2 | 314 | UTR 5 | XP_011525962.1 | |||
XM_011527662.2 | 314 | Intron | XP_011525964.1 | |||
XM_011527664.2 | 314 | Intron | XP_011525966.1 | |||
XM_011527667.2 | 314 | Missense Mutation | CAC,CGC | H,R 39 | XP_011525969.1 | |
XM_017026234.1 | 314 | Missense Mutation | CAC,CGC | H,R 39 | XP_016881723.1 | |
XM_017026235.1 | 314 | Intron | XP_016881724.1 | |||
XM_017026236.1 | 314 | Intron | XP_016881725.1 |