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CTGCGCTGCCTAAGTAGGGGCACAA[A/C]CTACCACTGCAAAGAGGAAGAGTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
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Literature Links: |
LCE6A 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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LCE6A - late cornified envelope 6A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128600.1 | 385 | Missense Mutation | AAC,ACC | N,T 69 | NP_001122072.1 | |
XM_017001327.1 | 385 | Missense Mutation | AAC,ACC | N,T 69 | XP_016856816.1 |