Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCGAATGTCCCCGAGGCCGAATG[C/T]TCCCGAACGTCGGTTCTCCACCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602635 MIM: 614988 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DEAF1 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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DEAF1 - DEAF1, transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001293634.1 | 22 | UTR 5 | NP_001280563.1 | |||
NM_021008.3 | 22 | UTR 5 | NP_066288.2 | |||
XM_011519842.2 | 22 | Intron | XP_011518144.1 |
EPS8L2 - EPS8 like 2 | ||||||
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There are no transcripts associated with this gene. |
TMEM80 - transmembrane protein 80 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042463.2 | 22 | Missense Mutation | CTC,TTC | L,F 2 | NP_001035928.2 | |
NM_001276253.1 | 22 | Missense Mutation | CTC,TTC | L,F 2 | NP_001263182.1 | |
NM_001276274.1 | 22 | Missense Mutation | CTC,TTC | L,F 2 | NP_001263203.1 | |
NM_174940.3 | 22 | Missense Mutation | CTC,TTC | L,F 2 | NP_777600.3 | |
XM_006718206.3 | 22 | Missense Mutation | CTC,TTC | L,F 2 | XP_006718269.3 | |
XM_017017600.1 | 22 | Missense Mutation | CTC,TTC | L,F 2 | XP_016873089.1 |