Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTATCCTCACCGCTACCTGGTCCTC[A/G]ATCTTGCTCTGCTGTTTCTGATGGG
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 |
---|---|---|
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 |
DEAF1 - DEAF1, transcription factor | ||||||
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There are no transcripts associated with this gene. |
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 | 409 | Missense Mutation | AAT,GAT | N,D 131 | NP_001035928.2 | |
NM_001276253.1 | 409 | Intron | NP_001263182.1 | |||
NM_001276274.1 | 409 | Missense Mutation | AAT,GAT | N,D 131 | NP_001263203.1 | |
NM_174940.3 | 409 | Missense Mutation | AAT,GAT | N,D 123 | NP_777600.3 | |
XM_006718206.3 | 409 | Missense Mutation | AAT,GAT | N,D 131 | XP_006718269.3 | |
XM_017017600.1 | 409 | Missense Mutation | AAT,GAT | N,D 123 | XP_016873089.1 |