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AATCTCAAAAATCAATGTAGCATCC[A/G]GTGGAATCTTGCCTTCTGCTAAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610219 MIM: 607062 | ||||||||||||||||||||
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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There are no transcripts associated with this gene. |
FKBP7 - FK506 binding protein 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135212.1 | 521 | Missense Mutation | CCG,CTG | P,L 130 | NP_001128684.1 | |
NM_181342.2 | 521 | Missense Mutation | CCG,CTG | P,L 131 | NP_851939.1 | |
XM_005246638.4 | 521 | Intron | XP_005246695.1 | |||
XM_011511348.2 | 521 | Missense Mutation | CCG,CTG | P,L 24 | XP_011509650.1 | |
XM_011511349.2 | 521 | Missense Mutation | CCG,CTG | P,L 23 | XP_011509651.1 |