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TCAGATCTTGCACTGGCAGCACACG[A/G]GGACACAGCAACTGGACTGGGAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 148022 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KRTAP5-1 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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KRTAP5-1 - keratin associated protein 5-1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005922.1 | 846 | Missense Mutation | CCC,CTC | P,L 271 | NP_001005922.1 |
KRTAP5-AS1 - KRTAP5-1/KRTAP5-2 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |