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CCCACTGTCCTCGCGCTCCAGCGGC[A/G]GGGCCTCGGCGCGGTGCCTGCTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610219 MIM: 603424 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DFNB59 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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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 | 115 | Intron | NP_001036167.1 | |||
XM_005246627.2 | 115 | Intron | XP_005246684.1 | |||
XM_005246628.3 | 115 | Intron | XP_005246685.1 | |||
XM_005246629.3 | 115 | Intron | XP_005246686.1 | |||
XM_011511247.2 | 115 | Intron | XP_011509549.1 | |||
XM_011511249.2 | 115 | Intron | XP_011509551.1 | |||
XM_011511250.2 | 115 | Intron | XP_011509552.1 | |||
XM_011511251.1 | 115 | Intron | XP_011509553.1 | |||
XM_017004221.1 | 115 | Intron | XP_016859710.1 | |||
XM_017004222.1 | 115 | Intron | XP_016859711.1 | |||
XM_017004223.1 | 115 | Intron | XP_016859712.1 | |||
XM_017004224.1 | 115 | Intron | XP_016859713.1 | |||
XM_017004225.1 | 115 | Intron | XP_016859714.1 |
PRKRA - protein activator of interferon induced protein kinase EIF2AK2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001139517.1 | 115 | Intron | NP_001132989.1 | |||
NM_001139518.1 | 115 | Intron | NP_001132990.1 | |||
NM_001316362.1 | 115 | UTR 5 | NP_001303291.1 | |||
NM_003690.4 | 115 | Missense Mutation | CCG,CTG | P,L 11 | NP_003681.1 | |
XM_011512063.1 | 115 | UTR 5 | XP_011510365.1 | |||
XM_011512066.1 | 115 | Intron | XP_011510368.1 | |||
XM_017005159.1 | 115 | UTR 5 | XP_016860648.1 |