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TCAGCTGAGGCAAACAAGCGCTGCA[C/T]AATCCCAAACCTTTCTGTATCTTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608798 MIM: 606959 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DFNA5 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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DFNA5 - DFNA5, deafness associated tumor suppressor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127453.1 | 1675 | Missense Mutation | ATG,GTG | M,V 448 | NP_001120925.1 | |
NM_001127454.1 | 1675 | Missense Mutation | ATG,GTG | M,V 284 | NP_001120926.1 | |
NM_004403.2 | 1675 | Missense Mutation | ATG,GTG | M,V 448 | NP_004394.1 | |
XM_017011802.1 | 1675 | Missense Mutation | ATG,GTG | M,V 284 | XP_016867291.1 |
MPP6 - membrane palmitoylated protein 6 | ||||||
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There are no transcripts associated with this gene. |