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ACTGAGTTTCTTCTTATAAAGGTAT[C/T]TCATCTTATCAATTACTGAATTATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610219 MIM: 607062 MIM: 603424 | ||||||||||||||||||||
Literature Links: |
DFNB59 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 |
DFNB59 - deafness, autosomal recessive 59 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042702.3 | 943 | Silent Mutation | ATC,ATT | I,I 72 | NP_001036167.1 | |
XM_005246627.2 | 943 | Silent Mutation | ATC,ATT | I,I 75 | XP_005246684.1 | |
XM_005246628.3 | 943 | Silent Mutation | ATC,ATT | I,I 107 | XP_005246685.1 | |
XM_005246629.3 | 943 | Silent Mutation | ATC,ATT | I,I 69 | XP_005246686.1 | |
XM_011511247.2 | 943 | Silent Mutation | ATC,ATT | I,I 107 | XP_011509549.1 | |
XM_011511249.2 | 943 | UTR 5 | XP_011509551.1 | |||
XM_011511250.2 | 943 | UTR 5 | XP_011509552.1 | |||
XM_011511251.1 | 943 | UTR 5 | XP_011509553.1 | |||
XM_017004221.1 | 943 | Silent Mutation | ATC,ATT | I,I 107 | XP_016859710.1 | |
XM_017004222.1 | 943 | UTR 5 | XP_016859711.1 | |||
XM_017004223.1 | 943 | UTR 5 | XP_016859712.1 | |||
XM_017004224.1 | 943 | UTR 5 | XP_016859713.1 | |||
XM_017004225.1 | 943 | UTR 5 | XP_016859714.1 |
FKBP7 - FK506 binding protein 7 | ||||||
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There are no transcripts associated with this gene. |
PRKRA - protein activator of interferon induced protein kinase EIF2AK2 | ||||||
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There are no transcripts associated with this gene. |